Dramatic improvements in survival have been achieved for children and adolescents with cancer. Between 1975 and 2020, childhood cancer mortality decreased by more than 50%.[1-3] For children younger than 20 years with Wilms tumor (also known as nephroblastoma), the 5-year relative survival rate is 93%.[2] Childhood and adolescent cancer survivors require close monitoring because cancer therapy side effects may persist or develop months or years after treatment. For information about the incidence, type, and monitoring of late effects in childhood and adolescent cancer survivors, see Late Effects of Treatment for Childhood Cancer.

Childhood kidney cancers account for about 7% of all childhood cancers. Most childhood kidney cancers are Wilms tumor, but in the 15- to 19-year age group, most tumors are renal cell carcinoma. The 5-year relative survival rate for patients with renal cell carcinoma in this age group is 76%.[2] Wilms tumor can affect one kidney (unilateral) or both kidneys (bilateral). Less common types of childhood kidney tumors include rhabdoid tumors, clear cell sarcoma, congenital mesoblastic nephroma, Ewing sarcoma of the kidney, primary renal myoepithelial carcinoma, cystic partially differentiated nephroblastoma, multilocular cystic nephroma, primary renal synovial sarcoma, and anaplastic sarcoma. Nephroblastomatosis of the kidney is a type of nonmalignant neoplasia.[4,5]

References

1. Smith MA, Altekruse SF, Adamson PC, et al.: Declining childhood and adolescent cancer mortality. Cancer 120 (16): 2497-506, 2014. [PUBMED Abstract]
2. National Cancer Institute: NCCR*Explorer: An interactive website for NCCR cancer statistics. Bethesda, MD: National Cancer Institute. Available online. Last accessed August 23, 2024.
3. Surveillance Research Program, National Cancer Institute: SEER*Explorer: An interactive website for SEER cancer statistics. Bethesda, MD: National Cancer Institute. Available online. Last accessed September 5, 2024.
4. Ahmed HU, Arya M, Levitt G, et al.: Part I: Primary malignant non-Wilms' renal tumours in children. Lancet Oncol 8 (8): 730-7, 2007. [PUBMED Abstract]
5. Ahmed HU, Arya M, Levitt G, et al.: Part II: Treatment of primary malignant non-Wilms' renal tumours in children. Lancet Oncol 8 (9): 842-8, 2007. [PUBMED Abstract]

Molecular Features of Wilms Tumor

A Wilms tumor may arise during embryogenesis on the background of an otherwise genomically normal kidney, or it may arise from nongermline somatic genetic precursor lesions residing in histologically and functionally normal kidney tissue. Hypermethylation of H19, a known component of a subset of Wilms tumors, is a very common genetic abnormality found in these normal-appearing areas of precursor lesions.[69]

One study performed genome-wide sequencing, mRNA and miRNA expression, DNA copy number, and methylation analysis on 117 Wilms tumors, followed by targeted sequencing of 651 Wilms tumors.[70] The tumors were selected for either favorable histology (FH) Wilms that had relapsed or those with diffuse anaplasia. The study showed the following:[70]

• Wilms tumors commonly arise through more than one genetic event.
• Wilms tumors show differences in gene expression and methylation patterns with different genetic aberrations.
• Wilms tumors have a large number of candidate driver genes, most of which are altered in less than 5% of Wilms tumors.
• Wilms tumors have recurrent variants in genes with common functions, with most involved in either early renal development or epigenetic regulation (e.g., chromatin modifications, transcription elongation, and miRNA).

Approximately one-third of Wilms tumor cases involve variants in WT1, CTNNB1, or AMER1 (WTX).[71,72] Another subset of Wilms tumor cases results from variants in miRNA processing genes (miRNAPG), including DROSHA, DGCR8, DICER1, and XPO5.[73-76] Other genes critical for early renal development that are recurrently altered in Wilms tumor include SIX1 and SIX2 (transcription factors that play key roles in early renal development),[73,74] EP300, CREBBP, and MYCN.[70] Of the variants in Wilms tumors, 30% to 50% appear to converge on the process of transcriptional elongation in renal development and include the genes MLLT1, BCOR, MAP3K4, BRD7, and HDAC4.[70] Anaplastic Wilms tumor is characterized by the presence of TP53 variants.

Elevated rates of Wilms tumor are observed in patients with a number of genetic disorders, including WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and range of developmental delays) syndrome (WAGR spectrum), Beckwith-Wiedemann syndrome, hemihypertrophy, Denys-Drash syndrome, and Perlman syndrome.[77] Other genetic causes that have been observed in familial Wilms tumor cases include germline variants in REST and CTR9.[58,78]

The genomic and genetic characteristics of Wilms tumor are summarized below.

WT1 gene

The WT1 gene is located on the short arm of chromosome 11 (11p13). WT1 is a transcription factor that is required for normal genitourinary development and is important for differentiation of the renal blastema.[79] WT1 variants are observed in 10% to 20% of cases of sporadic Wilms tumor.[71,79,80]

Wilms tumor with a WT1 variant is characterized by the following:

• Evidence of WNT pathway activation by activating variants in the CTNNB1 gene is common.[80-82]
• Loss of heterozygosity (LOH) at 11p15 is commonly observed, as paternal uniparental disomy for chromosome 11 represents a common mechanism for losing the remaining normal WT1 allele.[80,83]
• Nephrogenic rests are benign foci of embryonal kidney cells that abnormally persist into postnatal life. Intralobar nephrogenic rests occur in approximately 20% of Wilms tumor cases. They are observed at high rates in cases with genetic syndromes that have WT1 variants such as WAGR and Denys-Drash syndromes.[84] Intralobar nephrogenic rests are also observed in cases with sporadic WT1 and MLLT1 variants.[85,86]
• WT1 germline variants are uncommon (2%–4%) in nonsyndromic Wilms tumor.[57,87]
• WT1 variants and 11p15 LOH were associated with relapse in patients with very low-risk Wilms tumor in one study of 56 patients who did not receive chemotherapy.[88] These findings need validation but may provide biomarkers for stratifying patients in the future.

Germline WT1 variants are more common in children with Wilms tumor and one of the following:

• WAGR syndrome, Denys-Drash syndrome,[22] or Frasier syndrome.[19]
• Genitourinary anomalies, including hypospadias and cryptorchidism.
• Bilateral Wilms tumor.
• Unilateral Wilms tumor with nephrogenic rests in the contralateral kidney.
• Stromal and rhabdomyomatous differentiation.

Germline WT1 single nucleotide variants produce genetic syndromes that are characterized by nephropathy, 46XY disorder of sex development, and varying risks of Wilms tumor.[89,90] Syndromic conditions with germline WT1 variants include WAGR syndrome, Denys-Drash syndrome,[22] and Frasier syndrome.[19]

• WAGR syndrome. Children with WAGR syndrome are at high risk (approximately 50%) of developing Wilms tumor.[6] WAGR syndrome results from deletions at chromosome 11p13 that involve a set of contiguous genes that include the WT1 and PAX6 genes.

  Inactivating variants or deletions in the PAX6 gene lead to aniridia, while deletion of WT1 confers the increased risk of Wilms tumor. Loss of the LMO2 gene has been associated with a more frequent development of Wilms tumor in patients with congenital aniridia and WAGR-region deletions.[91][Level of evidence C1] Sporadic aniridia in which WT1 is not deleted is not associated with increased risk of Wilms tumor. Accordingly, children with familial aniridia, generally occurring for many generations, and without renal abnormalities, have a normal WT1 gene and are not at an increased risk of Wilms tumor.[33,92]

  Wilms tumor in children with WAGR syndrome is characterized by an excess of bilateral disease, intralobar nephrogenic rests, early age at diagnosis, and stromal-predominant histology in FH tumors.[16] The intellectual disability in WAGR syndrome may be secondary to deletion of other genes, including SLC1A2 or BDNF.[59]

• Denys-Drash syndrome. This syndrome is characterized by nephrotic syndrome caused by diffuse mesangial sclerosis, XY pseudohermaphroditism, and increased risk of Wilms tumor (>90%).

  WT1 variants in Denys-Drash syndrome are most often missense variants in exons 8 and 9, which code for the DNA binding region of WT1.[22]

• Frasier syndrome. This syndrome is characterized by progressive nephropathy caused by focal segmental glomerulosclerosis, gonadoblastoma, and XY pseudohermaphroditism.

  WT1 variants in Frasier syndrome typically occur in intron 9 at the KT site, and create an alternative splicing variant, thereby preventing production of the usually more abundant WT1 +KTS isoform.[24]

Studies evaluating genotype/phenotype correlations of WT1 variants have shown that the risk of Wilms tumor is highest for truncating variants (14 of 17 cases, 82%) and lower for missense variants (27 of 67 cases, 42%). The risk is lowest for KTS splice site variants (1 of 27 cases, 4%).[89,90] Bilateral Wilms tumor was more common in cases with WT1-truncating variants (9 of 14 cases) than in cases with WT1 missense variants (3 of 27 cases).[89,90] These genomic studies confirm previous estimates of elevated risk of Wilms tumor for children with Denys-Drash syndrome and low risk of Wilms tumor for children with Frasier syndrome.

CTNNB1 gene

CTNNB1 is one of the most commonly altered genes in Wilms tumor, reported to occur in 15% of patients with Wilms tumor.[70,72,80,82,93] These CTNNB1 variants result in activation of the WNT pathway, which plays a prominent role in the developing kidney.[94] CTNNB1 variants commonly occur with WT1 variants, and most cases of Wilms tumor with WT1 variants have a concurrent CTNNB1 variant.[80,82,93] Activation of beta-catenin in the presence of intact WT1 protein appears to be inadequate to promote tumor development because CTNNB1 variants are rarely found in the absence of a WT1 or AMER1 variant, except when associated with a MLLT1 variant.[72,95] CTNNB1 variants appear to be late events in Wilms tumor development because they are found in tumors but not in nephrogenic rests.[85]

AMER1 (WTX) gene on the X chromosome

AMER1 is located on the X chromosome at Xq11.1. It is altered in 15% to 20% of Wilms tumor cases.[71,72,80,96,97] Germline variants in AMER1 cause an X-linked sclerosing bone dysplasia, osteopathia striata congenita with cranial sclerosis (MIM300373).[98] Despite having germline AMER1 variants, individuals with osteopathia striata congenita are not predisposed to tumor development.[98] The AMER1 protein appears to be involved in both the degradation of beta-catenin and in the intracellular distribution of APC protein.[95,99] AMER1 is most commonly altered by deletions involving part or all of the AMER1 gene, with deleterious single nucleotide variants occurring less commonly.[71,80,96] Most Wilms tumor cases with AMER1 alterations have epigenetic 11p15 abnormalities.[80]

AMER1 alterations are equally distributed between males and females, and AMER1 inactivation has no apparent effect on clinical presentation or prognosis.[71]

Imprinting cluster regions (ICRs) on chromosome 11p15 (WT2) and Beckwith-Wiedemann syndrome

A second Wilms tumor locus, WT2, maps to an imprinted region of chromosome 11p15.5. When it is a germline variant, it causes Beckwith-Wiedemann syndrome. About 3% of children with Wilms tumor have germline epigenetic or genetic changes at the 11p15.5 growth regulatory locus without any clinical manifestations of overgrowth. Like children with Beckwith-Wiedemann syndrome, these children have an increased incidence of bilateral Wilms tumor or familial Wilms tumor.[59]

Approximately one-fifth of patients with Beckwith-Wiedemann syndrome who develop Wilms tumor present with bilateral disease, and metachronous bilateral disease is also observed.[33-35] The prevalence of Beckwith-Wiedemann syndrome is about 1% among children with Wilms tumor reported to the National Wilms Tumor Study (NWTS).[4,35]

Approximately 80% of patients with Beckwith-Wiedemann syndrome have a molecular defect of the 11p15 domain.[100] Various molecular mechanisms underlying Beckwith-Wiedemann syndrome have been identified. Some of these abnormalities are genetic (germline variants of the maternal allele of CDKN1C, paternal uniparental isodisomy of 11p15, or duplication of part of the 11p15 domain) but are more frequently epigenetic (loss of methylation of the maternal ICR2 [CDKN1C and KCNQ1OT1 genes] or gain of methylation of the maternal ICR1 [IGF2 and H19 genes]).[59,101]

Several candidate genes at the WT2 locus comprise the two independent imprinted domains: IGF2 and H19; and CDKN1C and KCNQ1OT1.[101] LOH, which exclusively affects the maternal chromosome, has the effect of upregulating paternally active genes and silencing maternally active ones. A loss or switch of the imprint for genes (change in methylation status) in this region has also been frequently observed and results in the same functional aberrations.[59,100,101]

A relationship between epigenotype and phenotype has been shown in Beckwith-Wiedemann syndrome, with a different rate of cancer in Beckwith-Wiedemann syndrome according to the type of alteration of the 11p15 region.[102]

The following four main molecular subtypes of Beckwith-Wiedemann syndrome are characterized by specific genotype-phenotype correlations:

1. ICR1 gain of methylation (ICR1-GoM). Five percent to 10% of cases are caused by telomeric ICR1-GoM, which causes both biallelic expression of the IGF2 gene (normally expressed by the paternal allele only) and reduced expression of the oncosuppressor H19 gene. The incidence of Wilms tumor is 22.8%.[103]
2. ICR2 loss of methylation (ICR2-LoM). Fifty percent of cases with Beckwith-Wiedemann syndrome are caused by ICR2-LoM, resulting in reduced expression of the CDKN1C gene, normally expressed by the maternal chromosome only. Tumor incidence is very low (2.5%).[103]
3. Uniparental disomy (UPD). Altered expression at both imprinted gene clusters is observed in mosaic UPD of chromosome 11p15.5, accounting for 20% to 25% of the cases. The incidence of Wilms tumor is 6.2%, followed by hepatoblastoma (4.7%) and adrenal carcinoma (1.5%).[103] Fewer than 1% of cases with Beckwith-Wiedemann syndrome are caused by chromosomal rearrangements involving the 11p15 region.
4. CDKN1C variants. Maternally inheritable CDKN1C loss-of-function variants account for approximately 5% of the cases. This type is associated with a 4.3% incidence of neuroblastoma.[103]

Other tumors such as neuroblastoma or hepatoblastoma were reported in patients with paternal 11p15 isodisomy.[27,31,104] For patients with Beckwith-Wiedemann syndrome, the relative risk of developing hepatoblastoma is 2,280 times that of the general population.[35]

Loss of imprinting or gene methylation is rarely found at other loci, supporting the specificity of loss of imprinting at 11p15.5.[105] Interestingly, Wilms tumor in Japanese and East Asian children, which occurs at a lower incidence than in White children, is not associated with either nephrogenic rests or IGF2 loss of imprinting.[106]

Other genes and chromosomal alterations

Additional genes and chromosomal alterations that have been implicated in the pathogenesis and biology of Wilms tumor include the following:

• 1q. Gain of chromosome 1q is associated with an inferior outcome and is the single most powerful predictor of outcome.[107,108] Gain of chromosome 1q is one of the most common cytogenetic abnormalities in Wilms tumor and is observed in approximately 30% of tumors.

  In an analysis of FH Wilms tumor from 1,114 patients from NWTS-5 (COG-Q9401/NCT00002611), 28% of the tumors displayed 1q gain.[107]

  • The 8-year event-free survival (EFS) rate was 77% for patients with 1q gain and 90% for those lacking 1q gain (P < .001). Within each disease stage, 1q gain was associated with inferior EFS.
  • The 8-year overall survival (OS) rate was 88% for those with 1q gain and 96% for those lacking 1q gain (P < .001). OS was significantly inferior in cases with stage I disease (P < .0015) and stage IV disease (P = .011).
  • Similar results were reported in the International Society of Paediatric Oncology (SIOP) WT 2001 study of 586 children with Wilms tumor.[108]

  One study included a cohort of FH Wilms tumor that was enriched for patients who relapsed. The study found that the prevalence of 1q gain was higher in the relapsed Wilms tumor specimens (75%) than in the matched primary samples (47%).[109] The increased prevalence of 1q gain at relapse supports its association with poor prognosis and disease progression.

• 16q and 1p. Additional tumor-suppressor or tumor-progression genes may lie on chromosomes 16q and 1p, as evidenced by LOH for these regions in 17% and 11% of Wilms tumor cases, respectively.[110]
  • In large NWTS studies, patients with tumor-specific loss of these loci had significantly worse relapse-free survival and OS rates. Combined loss of 1p and 16q are criteria used to select FH Wilms tumor patients for more aggressive therapy in the current Children's Oncology Group (COG) study. However, a U.K. study of more than 400 patients found no significant association between 1p deletion and poor prognosis, but a poor prognosis was associated with 16q LOH.[111]
  • An Italian study of 125 patients, using treatment quite similar to that in the COG study, found significantly worse prognosis in those with 1p deletions but not 16q deletions.[112]

  These conflicting results may arise from the greater prognostic significance of 1q gain described above. LOH of 16q and 1p loses significance as independent prognostic markers in the presence of 1q gain. However, in the absence of 1q gain, LOH of 16q and 1p retains their adverse prognostic impact.[107] The LOH of 16q and 1p appears to arise from complex chromosomal events that result in 1q LOH or 1q gain. The change in 1q appears to be the critical tumorigenic genetic event.[113]

• miRNAPG. Variants in selected miRNAPG are observed in approximately 20% of Wilms tumor cases and appear to perpetuate the progenitor state.[70,73-76] The products of these genes direct the maturation of miRNAs from the initial pre-miRNA transcripts to functional cytoplasmic miRNAs (see Figure 1).[114] The most commonly altered miRNAPG is DROSHA, with a recurrent variant (E1147K) affecting a metal-binding residue of the RNase IIIb domain, representing about 80% of DROSHA-altered tumors. Other miRNAPG that are altered in Wilms tumor include DGCR8, DICER1, TARBP2, DIS3L2, and XPO5. These variants are generally mutually exclusive, and they appear to be deleterious and result in impaired expression of tumor-suppressing miRNAs. A striking sex bias was noted for patients with variants in DGCR8 (located on chromosome 22q11), with 38 of 43 cases (88%) arising in girls.[73,74]

  Germline variants in miRNAPG are observed for DICER1 and DIS3L2, with variants in the former causing DICER1 syndrome and variants in the latter causing Perlman syndrome.

  • DICER1 syndrome is typically caused by inherited truncating variants in DICER1, with tumor formation following acquisition of a missense variant in a domain of the remaining allele of DICER1 (the RNase IIIb domain) responsible for processing miRNAs derived from the 5p arms of pre-miRNAs.[115] Tumors associated with DICER1 syndrome include pleuropulmonary blastoma, cystic nephroma, ovarian sex cord–stromal tumors, multinodular goiter, and embryonal rhabdomyosarcoma.[115] Wilms tumor is an uncommon presentation of the DICER1 syndrome. In one study, three families with DICER1 syndrome included children with Wilms tumor, with two of the Wilms tumor cases showing the typical second DICER1 variant in the RNase IIIb domain.[116] Another study identified DICER1 variants in 2 of 48 familial Wilms tumor families.[117] Large sequencing studies of Wilms tumor cohorts have also observed occasional cases with DICER1 variants.[74,75]
  • Perlman syndrome is a rare autosomal recessive overgrowth disorder caused by variants in DIS3L2, which encodes a ribonuclease that is responsible for degrading pre-let-7 miRNA.[39,118] Heterozygous DIS3L2 germline inactivations are also associated with Wilms tumor development.[36] Patients with Perlman syndrome have a poor prognosis, with a high neonatal mortality rate. In a survey of published cases of Perlman syndrome (N = 28), in infants who survived beyond the neonatal period, approximately two-thirds developed Wilms tumor, and all patients showed developmental delay. Fetal macrosomia, ascites, and polyhydramnios are frequent manifestations.[119]

    Enlarge

• SIX1 and SIX2. SIX1 and SIX2 are highly homologous transcription factors that play key roles in early renal development and are expressed in the metanephric mesenchyme, where they maintain the mesenchymal progenitor population. In patients with Wilms tumors, the frequency of SIX1 variants is 3% to 4%, and the frequency of SIX2 variants is 1% to 3%.[73,74]
  • Virtually all SIX1 and SIX2 variants are in exon 1 and result in a glutamine-to-arginine variant at position 177 (Q177R).
  • Variants in WT1, AMER1, and CTNNB1 are infrequent in cases with SIX1, SIX2, or miRNAPG variants. Conversely, SIX1 or SIX2 variants and miRNAPG variants tend to occur together.
  • In Wilms tumor, SIX1 and SIX2 variants are associated with the high-risk blastemal subtype and the presence of undifferentiated blastema in chemotherapy-naïve samples.
  • In a study of 82 cases of FH Wilms tumor, SIX1 Q177R hotspot variants were identified at a higher rate in tumor specimens at relapse (11 cases; 13.4%) than in those at diagnosis (4%). For 45 cases that had both diagnostic and relapse specimens, there were 6 cases with SIX1 Q177R at relapse, 3 of which did not have SIX1 Q177R at diagnosis. This finding suggests that this variant is not required for tumor development in some individuals with Wilms tumor.[109]
  MLLT1. Approximately 4% of Wilms tumor cases have variants in the highly conserved YEATS domain of MLLT1 (ENL), a gene known to be involved in transcriptional elongation by RNA polymerase II during early development.[86] The altered MLLT1 protein shows altered binding to acetylated histone tails. Patients with MLLT1-altered tumors present at a younger age and have a high prevalence of precursor intralobar nephrogenic rests, supporting a model whereby activating MLLT1 variants early in renal development result in the development of Wilms tumor.
• TP53 (tumor suppressor gene). Most anaplastic Wilms tumor cases show variants in the TP53 tumor suppressor gene.[120-122] TP53 may be useful as an unfavorable prognostic marker.[120,121]

  In a study of 118 prospectively identified patients with diffuse anaplastic Wilms tumor registered on the NWTS-5 trial, 57 patients (48%) demonstrated TP53 variants, 13 patients (11%) demonstrated TP53 segmental copy number loss without variants, and 48 patients (41%) lacked both (wild-type TP53 [wtTP53]). All TP53 variants were detected by sequencing alone. Patients with stage III or stage IV disease with wtTP53 had a significantly lower relapse rate and mortality rate than did patients with TP53 abnormalities (P = .00006 and P = .00007, respectively). The TP53 status had no effect on patients with stage I or stage II tumors.[123]

  • In-depth analysis of a subset of 39 patients with diffuse anaplastic Wilms tumor showed that 7 patients (18%) were wtTP53. These wtTP53 tumors demonstrated gene expression evidence of p53 pathway activation. Retrospective pathology review of wtTP53 tumors revealed no or very low volume of anaplasia in six of seven tumors. These data support the key role of TP53 loss in the development of anaplasia in Wilms tumor and support its significant clinical influence in patients who have residual anaplastic disease after surgery.[123]
• FBXW7. FBXW7, a ubiquitin ligase component, is an established tumor suppressor gene that has been identified as recurrently altered at low rates in Wilms tumor and other malignancies. Variants of this gene have been associated with epithelial-type tumor histology.[124]; [125][Level of evidence C1]
• TRIM28. TRIM28 encodes a multidomain protein involved in the regulation of many cellular processes and is an autosomal dominant Wilms tumor predisposition gene. TRIM28 accounts for about 8% of familial Wilms tumor and 2% of unselected Wilms tumor.[55,126-128]; [125][Level of evidence C1]
  • A strong association between TRIM28 variants and epithelial Wilms tumor has been observed, and most individuals with a TRIM28 variant have a Wilms tumor of predominantly epithelial histology.[55,126,127]; [125][Level of evidence C1]
  • In a cohort of 91 affected individuals from 49 families with Wilms tumor pedigrees, 33 individuals were identified as having constitutional cancer-predisposing variants, 21 of whom had a variant in TRIM28. There was a strong parent-of-origin effect, with all ten evaluable cases having inherited variants that were maternally transmitted.[125][Level of evidence C1]
  • Most TRIM28-altered cases have either frameshift, nonsense, or splice-site variants in one allele combined with LOH in the second allele, leading to loss of TRIM28 protein expression in the tumor. Immunohistochemistry staining for loss of TRIM28 protein expression can be used to identify most patients whose tumors have TRIM28 variants.[128]
• 9q22.3 microdeletion syndrome. Patients with 9q22.3 microdeletion syndrome have an increased risk of Wilms tumor.[43] The chromosomal region with germline deletion includes PTCH1, the gene that is altered in Gorlin syndrome (nevoid basal cell carcinoma syndrome associated with osteosarcoma). 9q22.3 microdeletion syndrome is characterized by the clinical findings of Gorlin syndrome, as well as developmental delay and/or intellectual disability, metopic craniosynostosis, obstructive hydrocephalus, prenatal and postnatal macrosomia, and seizures. Five patients who presented with Wilms tumor in the context of a constitutional 9q22.3 microdeletion have been reported.[43,129,130]
• MYCN. Genomic alterations involving the MYCN network (e.g., MYCN, MAX, MGA, NONO) have been reported to occur in 25% to 30% of Wilms tumor cases.[109] Specific genomic alterations associated with the MYCN network include the following:
  • MYCN copy number gain was observed in approximately 13% of Wilms tumor cases. MYCN gain was more common in anaplastic cases (7 of 23 cases, 30%) than in nonanaplastic cases (11.2%), and it was associated with poorer relapse-free survival (RFS) and overall survival, independent of histology.[131] MYCN tandem duplication was reported in 11 of 82 (13%) FH Wilms tumor specimens from relapse.[109]
  • Germline copy number gain at MYCN has been reported in a bilateral Wilms tumor case,[131] and germline MYCN duplication was also reported for a child with prenatal bilateral nephroblastomatosis and a family history of nephroblastoma.[132]
  • Variants at codon 44 (p.P44L) of MYCN are observed in approximately 3% to 4% of Wilms tumor cases at diagnosis [131,133] and in 8.5% of cases at relapse.[109] In a study of 810 Wilms tumor cases, 24 (3%) had MYCN P44L hotspot variants. RFS was significantly lower (68.6%) in patients with P44L variants than in patients with wild-type MYCN status (87.1%).[133]
  • The MYCN interacting protein MAX was altered at codon 60 (R60Q) in 7 of 782 Wilms tumor cases (0.9%).[133] RFS was significantly lower in patients with the MAX R60Q hotspot variant than in patients with wild-type MAX status.
• CTR9. Inactivating CTR9 germline variants were identified in 4 of 36 familial Wilms tumor pedigrees.[58,134] CTR9, which is located at chromosome 11p15.3, is a key component of the polymerase-associated factor 1 complex (PAF1c), which has multiple roles in RNA polymerase II regulation and is implicated in embryonic organogenesis and maintenance of embryonic stem cell pluripotency.
• REST. Inactivating germline variants in REST (encoding RE1-silencing transcription factor) were identified in four familial Wilms tumor pedigrees.[78] REST is a transcriptional repressor that functions in cellular differentiation and embryonic development. Most REST variants clustered within the portion of REST encoding the DNA-binding domain, and functional analyses showed that these variants compromise REST transcriptional repression. When screened for REST variants, 9 of 519 individuals with Wilms tumor who had no history of relatives with the disease tested positive for the variant; some had parents who also tested positive.[78] These observations indicate that REST is a Wilms tumor predisposition gene associated with approximately 2% of Wilms tumor.

Figure 2 summarizes the genomic landscape of a selected cohort of Wilms tumor patients selected because they experienced relapse despite showing FH.[86] The 75 FH Wilms tumor cases were clustered by unsupervised analysis of gene expression data, resulting in six clusters. Five of six MLLT1-altered tumors with available gene expression data were in cluster 3, and two were accompanied by CTNNB1 variants. This cluster also contained four tumors with a variant or small segment deletion of WT1, all of which also had either a variant of CTNNB1 or small segment deletion or variant of AMER1. It also contained a substantial number of tumors with retention of imprinting of 11p15 (including all MLLT1-altered tumors). The miRNAPG-altered cases clustered together and were mutually exclusive with both MLLT1 and with WT1-, AMER1-, or CTNNB1-altered cases.

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Genomic alterations in Wilms tumor at relapse

Wilms tumor at relapse appears to maintain most of the genomic alterations present at diagnosis, although there may be changes in the prevalence of alterations in specific genes between diagnosis and relapse.[109] A study from the Children’s Oncology Group presented whole-genome sequencing (WGS) data on relapse tumor specimens from 51 patients and corresponding diagnostic specimens from 45 of these patients. For an additional 31 patients who had relapse specimens available, a targeted sequencing panel was applied. Key findings included the following:

• The prevalence of 1q gain in relapsed Wilms tumor specimens (75%) was higher than that observed for tumors at diagnosis (47%).[109] The increased prevalence of 1q gain at relapse is consistent with its association with poor prognosis and disease progression.
• SIX1 Q177R hotspot variants were identified at a higher rate in tumor specimens at relapse (11 of 82 cases; 13.4%) than in those at diagnosis (4%).[109] For 45 cases with both diagnostic and relapse specimens, there were 6 cases with SIX1 Q177R at relapse, 3 of which did not have SIX1 Q177R at diagnosis. This is consistent with SIX1 Q177R not being an early tumorigenesis event in some cases.[109]
• Genomic alterations in genes associated with the MYCN network were present in approximately 30% of Wilms tumor cases at relapse.[109] The most common MYCN network alterations were MYCN tandem duplication (13%) and MYCN P44L hotspot variants (11%).

Recurrent and refractory Wilms tumors from 56 pediatric patients underwent tumor sequencing in the National Cancer Institute–Children's Oncology Group (NCI-COG) Pediatric MATCH trial. This process revealed genomic alterations that were considered actionable for treatment in MATCH study arms in 6 of 56 tumors (10.7%). BRCA2 variants were found in 2 of 56 tumors (3.6%).[135]

Genomic alterations in adults with Wilms tumor

Wilms tumor in patients older than 16 years is rare, with an incidence rate of less than 0.2 cases per 1 million people per year.[2] As a result, there are limited data available describing the genomic alterations that are observed in adults with Wilms tumor.

A study of 14 patients with a Wilms tumor diagnosis who were older than 16 years (range, 17–46 years; median age, 31 years) evaluated exonic variants for 1,425 cancer-related genes.[136]

• Five patients (36%) harbored BRAF V600E variants.[136] While BRAF V600E variants are extremely uncommon in pediatric Wilms tumor, they are present in 90% of metanephric adenomas of the kidney, a typically benign condition arising almost exclusively in adults.[137]
• All five adult cases of Wilms tumor with BRAF V600E had better-differentiated areas identical to metanephric adenoma adjacent to areas consistent in appearance with epithelial Wilms tumor.
• Two of the five cases with BRAF V600E variants had TERT promoter variants in addition to BRAF variants.
• ASXL1 variants were observed in 4 of 14 cases, including 1 of 5 cases with BRAF V600E variants and 3 of 9 cases without BRAF V600E variants. ASXL1 variants are not common in pediatric Wilms tumor (approximately 2% of cases).[70]
• For the nine tumors that did not have BRAF variants, some had genomic alterations associated with Wilms tumor in children (e.g., 1q gain and variants in WT1 [n = 2]).

Another report described renal tumors that had histological overlap between metanephric adenoma and epithelial Wilms tumor.[138] While most epithelial Wilms tumors (five of nine) with areas resembling metanephric adenoma were negative for BRAF V600E variants, four cases were positive for the BRAF V600E variant. Two of the cases with BRAF V600E variants occurred in children (aged 3 years and 6 years), and the other two cases occurred in adults.

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262. Feusner JH, Ritchey ML, Norkool PA, et al.: Renal failure does not preclude cure in children receiving chemotherapy for Wilms tumor: a report from the National Wilms Tumor Study Group. Pediatr Blood Cancer 50 (2): 242-5, 2008. [PUBMED Abstract]
263. Veal GJ, English MW, Grundy RG, et al.: Pharmacokinetically guided dosing of carboplatin in paediatric cancer patients with bilateral nephrectomy. Cancer Chemother Pharmacol 54 (4): 295-300, 2004. [PUBMED Abstract]
264. Dix DB, Fernandez CV, Chi YY, et al.: Augmentation of Therapy for Combined Loss of Heterozygosity 1p and 16q in Favorable Histology Wilms Tumor: A Children's Oncology Group AREN0532 and AREN0533 Study Report. J Clin Oncol 37 (30): 2769-2777, 2019. [PUBMED Abstract]
265. Stokes CL, Stokes WA, Kalapurakal JA, et al.: Timing of Radiation Therapy in Pediatric Wilms Tumor: A Report From the National Cancer Database. Int J Radiat Oncol Biol Phys 101 (2): 453-461, 2018. [PUBMED Abstract]
266. Dix DB, Seibel NL, Chi YY, et al.: Treatment of Stage IV Favorable Histology Wilms Tumor With Lung Metastases: A Report From the Children's Oncology Group AREN0533 Study. J Clin Oncol 36 (16): 1564-1570, 2018. [PUBMED Abstract]
267. Daw NC, Chi YY, Kalapurakal JA, et al.: Activity of Vincristine and Irinotecan in Diffuse Anaplastic Wilms Tumor and Therapy Outcomes of Stage II to IV Disease: Results of the Children's Oncology Group AREN0321 Study. J Clin Oncol 38 (14): 1558-1568, 2020. [PUBMED Abstract]
268. Thomas PR, Tefft M, Compaan PJ, et al.: Results of two radiation therapy randomizations in the third National Wilms' Tumor Study. Cancer 68 (8): 1703-7, 1991. [PUBMED Abstract]
269. Tefft M, D'Angio GJ, Beckwith B, et al.: Patterns of intra-abdominal relapse (IAR) in patients with Wilms' tumor who received radiation: analysis by histopathology. A report of National Wilms' Tumor Studies 1 and 2 (NWTS-1 & 2). Int J Radiat Oncol Biol Phys 6 (6): 663-7, 1980. [PUBMED Abstract]
270. Thomas PR, Tefft M, Farewell VT, et al.: Abdominal relapses in irradiated second National Wilms' Tumor Study patients. J Clin Oncol 2 (10): 1098-101, 1984. [PUBMED Abstract]
271. Meisel JA, Guthrie KA, Breslow NE, et al.: Significance and management of computed tomography detected pulmonary nodules: a report from the National Wilms Tumor Study Group. Int J Radiat Oncol Biol Phys 44 (3): 579-85, 1999. [PUBMED Abstract]
272. Dávila Fajardo R, Furtwängler R, van Grotel M, et al.: Outcome of Stage IV Completely Necrotic Wilms Tumour and Local Stage III Treated According to the SIOP 2001 Protocol. Cancers (Basel) 13 (5): , 2021. [PUBMED Abstract]
273. Vujanić GM, Graf N, D'Hooghe E, et al.: Omission of adjuvant chemotherapy in patients with completely necrotic Wilms tumor stage I and radiotherapy in stage III: The 30-year SIOP-RTSG experience. Pediatr Blood Cancer 71 (3): e30852, 2024. [PUBMED Abstract]
274. Daw NC, Chi YY, Kim Y, et al.: Treatment of stage I anaplastic Wilms' tumour: a report from the Children's Oncology Group AREN0321 study. Eur J Cancer 118: 58-66, 2019. [PUBMED Abstract]
275. Green DM, Breslow NE, Beckwith JB, et al.: Treatment with nephrectomy only for small, stage I/favorable histology Wilms' tumor: a report from the National Wilms' Tumor Study Group. J Clin Oncol 19 (17): 3719-24, 2001. [PUBMED Abstract]
276. Kalapurakal JA, Li SM, Breslow NE, et al.: Intraoperative spillage of favorable histology wilms tumor cells: influence of irradiation and chemotherapy regimens on abdominal recurrence. A report from the National Wilms Tumor Study Group. Int J Radiat Oncol Biol Phys 76 (1): 201-6, 2010. [PUBMED Abstract]
277. Evageliou N, Renfro LA, Geller J, et al.: Prognostic impact of lymph node involvement and loss of heterozygosity of 1p or 16q in stage III favorable histology Wilms tumor: A report from Children's Oncology Group Studies AREN03B2 and AREN0532. Cancer 130 (5): 792-802, 2024. [PUBMED Abstract]
278. Benedetti DJ, Varela CR, Renfro LA, et al.: Treatment of children with favorable histology Wilms tumor with extrapulmonary metastases: A report from the COG studies AREN0533 and AREN03B2 and NWTSG study NWTS-5. Cancer 130 (6): 947-961, 2024. [PUBMED Abstract]
279. Grundy PE, Green DM, Dirks AC, et al.: Clinical significance of pulmonary nodules detected by CT and Not CXR in patients treated for favorable histology Wilms tumor on national Wilms tumor studies-4 and -5: a report from the Children's Oncology Group. Pediatr Blood Cancer 59 (4): 631-5, 2012. [PUBMED Abstract]
280. Verschuur A, Van Tinteren H, Graf N, et al.: Treatment of pulmonary metastases in children with stage IV nephroblastoma with risk-based use of pulmonary radiotherapy. J Clin Oncol 30 (28): 3533-9, 2012. [PUBMED Abstract]
281. Varan A, Büyükpamukçu N, Cağlar M, et al.: Prognostic significance of metastatic site at diagnosis in Wilms' tumor: results from a single center. J Pediatr Hematol Oncol 27 (4): 188-91, 2005. [PUBMED Abstract]
282. Szavay P, Luithle T, Graf N, et al.: Primary hepatic metastases in nephroblastoma--a report of the SIOP/GPOH Study. J Pediatr Surg 41 (1): 168-72; discussion 168-72, 2006. [PUBMED Abstract]
283. Fuchs J, Szavay P, Luithle T, et al.: Surgical implications for liver metastases in nephroblastoma--data from the SIOP/GPOH study. Surg Oncol 17 (1): 33-40, 2008. [PUBMED Abstract]
284. Aronson DC, Maharaj A, Sheik-Gafoor MH, et al.: The results of treatment of children with metastatic Wilms tumours (WT) in an African setting: do liver metastases have a negative impact on survival? Pediatr Blood Cancer 59 (2): 391-4, 2012. [PUBMED Abstract]
285. Liné A, Sudour-Bonnange H, Languillat-Fouquet V, et al.: Liver metastasis at diagnosis in children with nephroblastoma enrolled in SIOP2001 protocol: A French multicentric study. Pediatr Blood Cancer 67 (6): e28201, 2020. [PUBMED Abstract]
286. Kalapurakal JA, Pokhrel D, Gopalakrishnan M, et al.: Advantages of whole-liver intensity modulated radiation therapy in children with Wilms tumor and liver metastasis. Int J Radiat Oncol Biol Phys 85 (3): 754-60, 2013. [PUBMED Abstract]
287. Breslow NE, Collins AJ, Ritchey ML, et al.: End stage renal disease in patients with Wilms tumor: results from the National Wilms Tumor Study Group and the United States Renal Data System. J Urol 174 (5): 1972-5, 2005. [PUBMED Abstract]
288. Aronson DC, Slaar A, Heinen RC, et al.: Long-term outcome of bilateral Wilms tumors (BWT). Pediatr Blood Cancer 56 (7): 1110-3, 2011. [PUBMED Abstract]
289. Zuppan CW, Beckwith JB, Weeks DA, et al.: The effect of preoperative therapy on the histologic features of Wilms' tumor. An analysis of cases from the Third National Wilms' Tumor Study. Cancer 68 (2): 385-94, 1991. [PUBMED Abstract]
290. Ehrlich PF: Bilateral Wilms' tumor: the need to improve outcomes. Expert Rev Anticancer Ther 9 (7): 963-73, 2009. [PUBMED Abstract]
291. Chintagumpala MM, Perlman EJ, Tornwall B, et al.: Outcomes based on histopathologic response to preoperative chemotherapy in children with bilateral Wilms tumor: A prospective study (COG AREN0534). Cancer 128 (13): 2493-2503, 2022. [PUBMED Abstract]
292. Romao RLP, Aldrink JH, Renfro LA, et al.: Bilateral Wilms tumor with anaplasia: A report from the Children's Oncology Group Study AREN0534. Pediatr Blood Cancer 71 (7): e30981, 2024. [PUBMED Abstract]
293. Sudour H, Audry G, Schleimacher G, et al.: Bilateral Wilms tumors (WT) treated with the SIOP 93 protocol in France: epidemiological survey and patient outcome. Pediatr Blood Cancer 59 (1): 57-61, 2012. [PUBMED Abstract]
294. Davidoff AM, Interiano RB, Wynn L, et al.: Overall Survival and Renal Function of Patients With Synchronous Bilateral Wilms Tumor Undergoing Surgery at a Single Institution. Ann Surg 262 (4): 570-6, 2015. [PUBMED Abstract]
295. Kieran K, Williams MA, McGregor LM, et al.: Repeat nephron-sparing surgery for children with bilateral Wilms tumor. J Pediatr Surg 49 (1): 149-53, 2014. [PUBMED Abstract]
296. Kist-van Holthe JE, Ho PL, Stablein D, et al.: Outcome of renal transplantation for Wilms' tumor and Denys-Drash syndrome: a report of the North American Pediatric Renal Transplant Cooperative Study. Pediatr Transplant 9 (3): 305-10, 2005. [PUBMED Abstract]
297. Venkatramani R, Chi YY, Coppes MJ, et al.: Outcome of patients with intracranial relapse enrolled on national Wilms Tumor Study Group clinical trials. Pediatr Blood Cancer 64 (7): , 2017. [PUBMED Abstract]
298. Iaboni DSM, Chi YY, Kim Y, et al.: Outcome of Wilms tumor patients with bone metastasis enrolled on National Wilms Tumor Studies 1-5: A report from the Children's Oncology Group. Pediatr Blood Cancer 66 (1): e27430, 2019. [PUBMED Abstract]
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300. Reinhard H, Schmidt A, Furtwängler R, et al.: Outcome of relapses of nephroblastoma in patients registered in the SIOP/GPOH trials and studies. Oncol Rep 20 (2): 463-7, 2008. [PUBMED Abstract]
301. Malogolowkin M, Spreafico F, Dome JS, et al.: Incidence and outcomes of patients with late recurrence of Wilms' tumor. Pediatr Blood Cancer 60 (10): 1612-5, 2013. [PUBMED Abstract]
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303. Grundy P, Breslow N, Green DM, et al.: Prognostic factors for children with recurrent Wilms' tumor: results from the Second and Third National Wilms' Tumor Study. J Clin Oncol 7 (5): 638-47, 1989. [PUBMED Abstract]
304. Green DM, Cotton CA, Malogolowkin M, et al.: Treatment of Wilms tumor relapsing after initial treatment with vincristine and actinomycin D: a report from the National Wilms Tumor Study Group. Pediatr Blood Cancer 48 (5): 493-9, 2007. [PUBMED Abstract]
305. Warmann SW, Furtwängler R, Blumenstock G, et al.: Tumor biology influences the prognosis of nephroblastoma patients with primary pulmonary metastases: results from SIOP 93-01/GPOH and SIOP 2001/GPOH. Ann Surg 254 (1): 155-62, 2011. [PUBMED Abstract]
306. Groenendijk A, van Tinteren H, Jiang Y, et al.: Outcome of SIOP patients with low- or intermediate-risk Wilms tumour relapsing after initial vincristine and actinomycin-D therapy only - the SIOP 93-01 and 2001 protocols. Eur J Cancer 163: 88-97, 2022. [PUBMED Abstract]
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308. Garaventa A, Hartmann O, Bernard JL, et al.: Autologous bone marrow transplantation for pediatric Wilms' tumor: the experience of the European Bone Marrow Transplantation Solid Tumor Registry. Med Pediatr Oncol 22 (1): 11-4, 1994. [PUBMED Abstract]
309. Pein F, Michon J, Valteau-Couanet D, et al.: High-dose melphalan, etoposide, and carboplatin followed by autologous stem-cell rescue in pediatric high-risk recurrent Wilms' tumor: a French Society of Pediatric Oncology study. J Clin Oncol 16 (10): 3295-301, 1998. [PUBMED Abstract]
310. Rossoff J, Tse WT, Duerst RE, et al.: High-dose chemotherapy and autologous hematopoietic stem-cell rescue for treatment of relapsed and refractory Wilms tumor: Re-evaluating outcomes. Pediatr Hematol Oncol 35 (5-6): 316-321, 2018 Aug - Sep. [PUBMED Abstract]
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312. Spreafico F, Dalissier A, Pötschger U, et al.: High dose chemotherapy and autologous hematopoietic cell transplantation for Wilms tumor: a study of the European Society for Blood and Marrow Transplantation. Bone Marrow Transplant 55 (2): 376-383, 2020. [PUBMED Abstract]
313. Malogolowkin MH, Hemmer MT, Le-Rademacher J, et al.: Outcomes following autologous hematopoietic stem cell transplant for patients with relapsed Wilms' tumor: a CIBMTR retrospective analysis. Bone Marrow Transplant 52 (11): 1549-1555, 2017. [PUBMED Abstract]
314. Weil BR, Murphy AJ, Liu Q, et al.: Late Health Outcomes Among Survivors of Wilms Tumor Diagnosed Over Three Decades: A Report From the Childhood Cancer Survivor Study. J Clin Oncol 41 (14): 2638-2650, 2023. [PUBMED Abstract]
315. Wong KF, Reulen RC, Winter DL, et al.: Risk of Adverse Health and Social Outcomes Up to 50 Years After Wilms Tumor: The British Childhood Cancer Survivor Study. J Clin Oncol 34 (15): 1772-9, 2016. [PUBMED Abstract]
316. Foster KL, Salehabadi SM, Green DM, et al.: Clinical Assessment of Late Health Outcomes in Survivors of Wilms Tumor. Pediatrics 150 (5): , 2022. [PUBMED Abstract]
317. Lange JM, Takashima JR, Peterson SM, et al.: Breast cancer in female survivors of Wilms tumor: a report from the national Wilms tumor late effects study. Cancer 120 (23): 3722-30, 2014. [PUBMED Abstract]
318. Green DM, Grigoriev YA, Nan B, et al.: Congestive heart failure after treatment for Wilms' tumor: a report from the National Wilms' Tumor Study group. J Clin Oncol 19 (7): 1926-34, 2001. [PUBMED Abstract]
319. Practice Committee of the American Society for Reproductive Medicine. Electronic address: asrm@asrm.org: Fertility preservation in patients undergoing gonadotoxic therapy or gonadectomy: a committee opinion. Fertil Steril 112 (6): 1022-1033, 2019. [PUBMED Abstract]
320. Green DM, Liu W, Kutteh WH, et al.: Cumulative alkylating agent exposure and semen parameters in adult survivors of childhood cancer: a report from the St Jude Lifetime Cohort Study. Lancet Oncol 15 (11): 1215-23, 2014. [PUBMED Abstract]
321. Green DM, Lange JM, Peabody EM, et al.: Pregnancy outcome after treatment for Wilms tumor: a report from the national Wilms tumor long-term follow-up study. J Clin Oncol 28 (17): 2824-30, 2010. [PUBMED Abstract]
322. Breslow NE, Takashima JR, Ritchey ML, et al.: Renal failure in the Denys-Drash and Wilms' tumor-aniridia syndromes. Cancer Res 60 (15): 4030-2, 2000. [PUBMED Abstract]

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56. De Pasquale MD, Pessolano R, Boldrini R, et al.: Continuing response to subsequent treatment lines with tyrosine kinase inhibitors in an adolescent with metastatic renal cell carcinoma. J Pediatr Hematol Oncol 33 (5): e176-9, 2011. [PUBMED Abstract]
57. Chowdhury T, Prichard-Jones K, Sebire NJ, et al.: Persistent complete response after single-agent sunitinib treatment in a case of TFE translocation positive relapsed metastatic pediatric renal cell carcinoma. J Pediatr Hematol Oncol 35 (1): e1-3, 2013. [PUBMED Abstract]
58. Ray S, Jones R, Pritchard-Jones K, et al.: Pediatric and young adult renal cell carcinoma. Pediatr Blood Cancer 67 (11): e28675, 2020. [PUBMED Abstract]
59. Wedekind MF, Ranalli M, Shah N: Clinical efficacy of cabozantinib in two pediatric patients with recurrent renal cell carcinoma. Pediatr Blood Cancer 64 (11): , 2017. [PUBMED Abstract]

References

1. van den Heuvel-Eibrink MM, van Tinteren H, Rehorst H, et al.: Malignant rhabdoid tumours of the kidney (MRTKs), registered on recent SIOP protocols from 1993 to 2005: a report of the SIOP renal tumour study group. Pediatr Blood Cancer 56 (5): 733-7, 2011. [PUBMED Abstract]
2. Reinhard H, Reinert J, Beier R, et al.: Rhabdoid tumors in children: prognostic factors in 70 patients diagnosed in Germany. Oncol Rep 19 (3): 819-23, 2008. [PUBMED Abstract]
3. Amar AM, Tomlinson G, Green DM, et al.: Clinical presentation of rhabdoid tumors of the kidney. J Pediatr Hematol Oncol 23 (2): 105-8, 2001. [PUBMED Abstract]
4. Tomlinson GE, Breslow NE, Dome J, et al.: Rhabdoid tumor of the kidney in the National Wilms' Tumor Study: age at diagnosis as a prognostic factor. J Clin Oncol 23 (30): 7641-5, 2005. [PUBMED Abstract]
5. Versteege I, Sévenet N, Lange J, et al.: Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 394 (6689): 203-6, 1998. [PUBMED Abstract]
6. Imbalzano AN, Jones SN: Snf5 tumor suppressor couples chromatin remodeling, checkpoint control, and chromosomal stability. Cancer Cell 7 (4): 294-5, 2005. [PUBMED Abstract]
7. Eaton KW, Tooke LS, Wainwright LM, et al.: Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer 56 (1): 7-15, 2011. [PUBMED Abstract]
8. Haruta M, Arai Y, Okita H, et al.: Frequent breakpoints of focal deletion and uniparental disomy in 22q11.1 or 11.2 segmental duplication region reveal distinct tumorigenesis in rhabdoid tumor of the kidney. Genes Chromosomes Cancer 60 (8): 546-558, 2021. [PUBMED Abstract]
9. Schneppenheim R, Frühwald MC, Gesk S, et al.: Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet 86 (2): 279-84, 2010. [PUBMED Abstract]
10. Hasselblatt M, Gesk S, Oyen F, et al.: Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. Am J Surg Pathol 35 (6): 933-5, 2011. [PUBMED Abstract]
11. Lee RS, Stewart C, Carter SL, et al.: A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. J Clin Invest 122 (8): 2983-8, 2012. [PUBMED Abstract]
12. Biegel JA, Zhou JY, Rorke LB, et al.: Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 59 (1): 74-9, 1999. [PUBMED Abstract]
13. Biegel JA: Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus 20 (1): E11, 2006. [PUBMED Abstract]
14. Bourdeaut F, Lequin D, Brugières L, et al.: Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin Cancer Res 17 (1): 31-8, 2011. [PUBMED Abstract]
15. Geller JI, Roth JJ, Biegel JA: Biology and Treatment of Rhabdoid Tumor. Crit Rev Oncog 20 (3-4): 199-216, 2015. [PUBMED Abstract]
16. Janson K, Nedzi LA, David O, et al.: Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation. Pediatr Blood Cancer 47 (3): 279-84, 2006. [PUBMED Abstract]
17. Sévenet N, Sheridan E, Amram D, et al.: Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet 65 (5): 1342-8, 1999. [PUBMED Abstract]
18. Hasselblatt M, Nagel I, Oyen F, et al.: SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis. Acta Neuropathol 128 (3): 453-6, 2014. [PUBMED Abstract]
19. Andrianteranagna M, Cyrta J, Masliah-Planchon J, et al.: SMARCA4-deficient rhabdoid tumours show intermediate molecular features between SMARCB1-deficient rhabdoid tumours and small cell carcinomas of the ovary, hypercalcaemic type. J Pathol 255 (1): 1-15, 2021. [PUBMED Abstract]
20. Teplick A, Kowalski M, Biegel JA, et al.: Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician. Eur J Pediatr 170 (3): 285-94, 2011. [PUBMED Abstract]
21. Mitchell SG, Pencheva B, Porter CC: Germline Genetics and Childhood Cancer: Emerging Cancer Predisposition Syndromes and Psychosocial Impacts. Curr Oncol Rep 21 (10): 85, 2019. [PUBMED Abstract]
22. Foulkes WD, Kamihara J, Evans DGR, et al.: Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome. Clin Cancer Res 23 (12): e62-e67, 2017. [PUBMED Abstract]
23. Morgan KM, Siow VS, Strotmeyer S, et al.: Characteristics and Outcomes in Pediatric Non-Central Nervous System Malignant Rhabdoid Tumors: A Report from the National Cancer Database. Ann Surg Oncol 29 (1): 671-678, 2022. [PUBMED Abstract]
24. Ahmed HU, Arya M, Levitt G, et al.: Part II: Treatment of primary malignant non-Wilms' renal tumours in children. Lancet Oncol 8 (9): 842-8, 2007. [PUBMED Abstract]
25. Furtwängler R, Nourkami-Tutdibi N, Leuschner I, et al.: Malignant rhabdoid tumor of the kidney: significantly improved response to pre-operative treatment intensified with doxorubicin. Cancer Genet 207 (9): 434-6, 2014. [PUBMED Abstract]
26. Waldron PE, Rodgers BM, Kelly MD, et al.: Successful treatment of a patient with stage IV rhabdoid tumor of the kidney: case report and review. J Pediatr Hematol Oncol 21 (1): 53-7, 1999 Jan-Feb. [PUBMED Abstract]
27. Wagner L, Hill DA, Fuller C, et al.: Treatment of metastatic rhabdoid tumor of the kidney. J Pediatr Hematol Oncol 24 (5): 385-8, 2002 Jun-Jul. [PUBMED Abstract]
28. Venkatramani R, Shoureshi P, Malvar J, et al.: High dose alkylator therapy for extracranial malignant rhabdoid tumors in children. Pediatr Blood Cancer 61 (8): 1357-61, 2014. [PUBMED Abstract]
29. Furtwängler R, Kager L, Melchior P, et al.: High-dose treatment for malignant rhabdoid tumor of the kidney: No evidence for improved survival-The Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH) experience. Pediatr Blood Cancer 65 (1): , 2018. [PUBMED Abstract]
30. Melchior P, Dzierma Y, Rübe C, et al.: Local Stage Dependent Necessity of Radiation Therapy in Rhabdoid Tumors of the Kidney (RTK). Int J Radiat Oncol Biol Phys 108 (3): 667-675, 2020. [PUBMED Abstract]

References

1. Argani P, Perlman EJ, Breslow NE, et al.: Clear cell sarcoma of the kidney: a review of 351 cases from the National Wilms Tumor Study Group Pathology Center. Am J Surg Pathol 24 (1): 4-18, 2000. [PUBMED Abstract]
2. Furtwängler R, Gooskens SL, van Tinteren H, et al.: Clear cell sarcomas of the kidney registered on International Society of Pediatric Oncology (SIOP) 93-01 and SIOP 2001 protocols: a report of the SIOP Renal Tumour Study Group. Eur J Cancer 49 (16): 3497-506, 2013. [PUBMED Abstract]
3. Seibel NL, Chi YY, Perlman EJ, et al.: Impact of cyclophosphamide and etoposide on outcome of clear cell sarcoma of the kidney treated on the National Wilms Tumor Study-5 (NWTS-5). Pediatr Blood Cancer 66 (1): e27450, 2019. [PUBMED Abstract]
4. Radulescu VC, Gerrard M, Moertel C, et al.: Treatment of recurrent clear cell sarcoma of the kidney with brain metastasis. Pediatr Blood Cancer 50 (2): 246-9, 2008. [PUBMED Abstract]
5. Gooskens SL, Furtwängler R, Spreafico F, et al.: Treatment and outcome of patients with relapsed clear cell sarcoma of the kidney: a combined SIOP and AIEOP study. Br J Cancer 111 (2): 227-33, 2014. [PUBMED Abstract]
6. Cao M, Zhang J, Ma H, et al.: Clear cell sarcoma of the kidney in an adult: a case report and literature review. Transl Cancer Res 11 (1): 288-294, 2022. [PUBMED Abstract]
7. Tao J, Yang H, Hao Z, et al.: Positive response of a recurrent clear cell sarcoma to anlotinib combined with chemotherapy: A case report. Medicine (Baltimore) 101 (48): e32109, 2022. [PUBMED Abstract]
8. Ueno-Yokohata H, Okita H, Nakasato K, et al.: Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney. Nat Genet 47 (8): 861-3, 2015. [PUBMED Abstract]
9. Argani P, Kao YC, Zhang L, et al.: Primary Renal Sarcomas With BCOR-CCNB3 Gene Fusion: A Report of 2 Cases Showing Histologic Overlap With Clear Cell Sarcoma of Kidney, Suggesting Further Link Between BCOR-related Sarcomas of the Kidney and Soft Tissues. Am J Surg Pathol 41 (12): 1702-1712, 2017. [PUBMED Abstract]
10. Karlsson J, Valind A, Gisselsson D: BCOR internal tandem duplication and YWHAE-NUTM2B/E fusion are mutually exclusive events in clear cell sarcoma of the kidney. Genes Chromosomes Cancer 55 (2): 120-3, 2016. [PUBMED Abstract]
11. Astolfi A, Melchionda F, Perotti D, et al.: Whole transcriptome sequencing identifies BCOR internal tandem duplication as a common feature of clear cell sarcoma of the kidney. Oncotarget 6 (38): 40934-9, 2015. [PUBMED Abstract]
12. Roy A, Kumar V, Zorman B, et al.: Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun 6: 8891, 2015. [PUBMED Abstract]
13. Wong MK, Ng CCY, Kuick CH, et al.: Clear cell sarcomas of the kidney are characterised by BCOR gene abnormalities, including exon 15 internal tandem duplications and BCOR-CCNB3 gene fusion. Histopathology 72 (2): 320-329, 2018. [PUBMED Abstract]
14. Kao YC, Sung YS, Zhang L, et al.: Recurrent BCOR Internal Tandem Duplication and YWHAE-NUTM2B Fusions in Soft Tissue Undifferentiated Round Cell Sarcoma of Infancy: Overlapping Genetic Features With Clear Cell Sarcoma of Kidney. Am J Surg Pathol 40 (8): 1009-20, 2016. [PUBMED Abstract]
15. Argani P, Pawel B, Szabo S, et al.: Diffuse Strong BCOR Immunoreactivity Is a Sensitive and Specific Marker for Clear Cell Sarcoma of the Kidney (CCSK) in Pediatric Renal Neoplasia. Am J Surg Pathol 42 (8): 1128-1131, 2018. [PUBMED Abstract]
16. Benedetti DJ, Renfro LA, Tfirn I, et al.: Treatment and outcomes of clear cell sarcoma of the kidney: A report from the Children's Oncology Group studies AREN0321 and AREN03B2. Cancer 130 (13): 2361-2371, 2024. [PUBMED Abstract]
17. Kalapurakal JA, Perlman EJ, Seibel NL, et al.: Outcomes of patients with revised stage I clear cell sarcoma of kidney treated in National Wilms Tumor Studies 1-5. Int J Radiat Oncol Biol Phys 85 (2): 428-31, 2013. [PUBMED Abstract]
18. Seibel NL, Li S, Breslow NE, et al.: Effect of duration of treatment on treatment outcome for patients with clear-cell sarcoma of the kidney: a report from the National Wilms' Tumor Study Group. J Clin Oncol 22 (3): 468-73, 2004. [PUBMED Abstract]
19. Pein F, Michon J, Valteau-Couanet D, et al.: High-dose melphalan, etoposide, and carboplatin followed by autologous stem-cell rescue in pediatric high-risk recurrent Wilms' tumor: a French Society of Pediatric Oncology study. J Clin Oncol 16 (10): 3295-301, 1998. [PUBMED Abstract]

References

1. England RJ, Haider N, Vujanic GM, et al.: Mesoblastic nephroma: a report of the United Kingdom Children's Cancer and Leukaemia Group (CCLG). Pediatr Blood Cancer 56 (5): 744-8, 2011. [PUBMED Abstract]
2. Jehangir S, Kurian JJ, Selvarajah D, et al.: Recurrent and metastatic congenital mesoblastic nephroma: where does the evidence stand? Pediatr Surg Int 33 (11): 1183-1188, 2017. [PUBMED Abstract]
3. van den Heuvel-Eibrink MM, Grundy P, Graf N, et al.: Characteristics and survival of 750 children diagnosed with a renal tumor in the first seven months of life: A collaborative study by the SIOP/GPOH/SFOP, NWTSG, and UKCCSG Wilms tumor study groups. Pediatr Blood Cancer 50 (6): 1130-4, 2008. [PUBMED Abstract]
4. Gooskens SL, Houwing ME, Vujanic GM, et al.: Congenital mesoblastic nephroma 50 years after its recognition: A narrative review. Pediatr Blood Cancer 64 (7): , 2017. [PUBMED Abstract]
5. Furtwaengler R, Reinhard H, Leuschner I, et al.: Mesoblastic nephroma--a report from the Gesellschaft fur Pädiatrische Onkologie und Hämatologie (GPOH). Cancer 106 (10): 2275-83, 2006. [PUBMED Abstract]
6. El Demellawy D, Cundiff CA, Nasr A, et al.: Congenital mesoblastic nephroma: a study of 19 cases using immunohistochemistry and ETV6-NTRK3 fusion gene rearrangement. Pathology 48 (1): 47-50, 2016. [PUBMED Abstract]
7. Argani P, Ladanyi M: Recent advances in pediatric renal neoplasia. Adv Anat Pathol 10 (5): 243-60, 2003. [PUBMED Abstract]
8. Vokuhl C, Nourkami-Tutdibi N, Furtwängler R, et al.: ETV6-NTRK3 in congenital mesoblastic nephroma: A report of the SIOP/GPOH nephroblastoma study. Pediatr Blood Cancer 65 (4): , 2018. [PUBMED Abstract]
9. Davis JL, Vargas SO, Rudzinski ER, et al.: Recurrent RET gene fusions in paediatric spindle mesenchymal neoplasms. Histopathology 76 (7): 1032-1041, 2020. [PUBMED Abstract]
10. Tan SY, Al-Ibraheemi A, Ahrens WA, et al.: ALK rearrangements in infantile fibrosarcoma-like spindle cell tumours of soft tissue and kidney. Histopathology 80 (4): 698-707, 2022. [PUBMED Abstract]
11. Wegert J, Vokuhl C, Collord G, et al.: Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants. Nat Commun 9 (1): 2378, 2018. [PUBMED Abstract]
12. Knezevich SR, Garnett MJ, Pysher TJ, et al.: ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma. Cancer Res 58 (22): 5046-8, 1998. [PUBMED Abstract]
13. Bayindir P, Guillerman RP, Hicks MJ, et al.: Cellular mesoblastic nephroma (infantile renal fibrosarcoma): institutional review of the clinical, diagnostic imaging, and pathologic features of a distinctive neoplasm of infancy. Pediatr Radiol 39 (10): 1066-74, 2009. [PUBMED Abstract]
14. McCahon E, Sorensen PH, Davis JH, et al.: Non-resectable congenital tumors with the ETV6-NTRK3 gene fusion are highly responsive to chemotherapy. Med Pediatr Oncol 40 (5): 288-92, 2003. [PUBMED Abstract]
15. Drilon A, Laetsch TW, Kummar S, et al.: Efficacy of Larotrectinib in TRK Fusion-Positive Cancers in Adults and Children. N Engl J Med 378 (8): 731-739, 2018. [PUBMED Abstract]
16. Entrectinib Shows Pediatric Potential. Cancer Discov 9 (7): OF4, 2019. [PUBMED Abstract]

References

1. Parham DM, Roloson GJ, Feely M, et al.: Primary malignant neuroepithelial tumors of the kidney: a clinicopathologic analysis of 146 adult and pediatric cases from the National Wilms' Tumor Study Group Pathology Center. Am J Surg Pathol 25 (2): 133-46, 2001. [PUBMED Abstract]
2. Tagarelli A, Spreafico F, Ferrari A, et al.: Primary renal soft tissue sarcoma in children. Urology 80 (3): 698-702, 2012. [PUBMED Abstract]
3. Bradford K, Nobori A, Johnson B, et al.: Primary Renal Ewing Sarcoma in Children and Young Adults. J Pediatr Hematol Oncol 42 (8): 474-481, 2020. [PUBMED Abstract]
4. Ellison DA, Parham DM, Bridge J, et al.: Immunohistochemistry of primary malignant neuroepithelial tumors of the kidney: a potential source of confusion? A study of 30 cases from the National Wilms Tumor Study Pathology Center. Hum Pathol 38 (2): 205-11, 2007. [PUBMED Abstract]
5. Tarek N, Said R, Andersen CR, et al.: Primary Ewing Sarcoma/Primitive Neuroectodermal Tumor of the Kidney: The MD Anderson Cancer Center Experience. Cancers (Basel) 12 (10): , 2020. [PUBMED Abstract]

References

1. Gleason BC, Fletcher CD: Myoepithelial carcinoma of soft tissue in children: an aggressive neoplasm analyzed in a series of 29 cases. Am J Surg Pathol 31 (12): 1813-24, 2007. [PUBMED Abstract]
2. Cajaiba MM, Jennings LJ, Rohan SM, et al.: Expanding the Spectrum of Renal Tumors in Children: Primary Renal Myoepithelial Carcinomas With a Novel EWSR1-KLF15 Fusion. Am J Surg Pathol 40 (3): 386-94, 2016. [PUBMED Abstract]

References

1. van Peer SE, Pleijte CJH, de Krijger RR, et al.: Clinical and Molecular Characteristics and Outcome of Cystic Partially Differentiated Nephroblastoma and Cystic Nephroma: A Narrative Review of the Literature. Cancers (Basel) 13 (5): , 2021. [PUBMED Abstract]
2. Cajaiba MM, Khanna G, Smith EA, et al.: Pediatric cystic nephromas: distinctive features and frequent DICER1 mutations. Hum Pathol 48: 81-7, 2016. [PUBMED Abstract]
3. Baker JM, Viero S, Kim PC, et al.: Stage III cystic partially differentiated nephroblastoma recurring after nephrectomy and chemotherapy. Pediatr Blood Cancer 50 (1): 129-31, 2008. [PUBMED Abstract]
4. Blakely ML, Shamberger RC, Norkool P, et al.: Outcome of children with cystic partially differentiated nephroblastoma treated with or without chemotherapy. J Pediatr Surg 38 (6): 897-900, 2003. [PUBMED Abstract]

References

1. van Peer SE, Pleijte CJH, de Krijger RR, et al.: Clinical and Molecular Characteristics and Outcome of Cystic Partially Differentiated Nephroblastoma and Cystic Nephroma: A Narrative Review of the Literature. Cancers (Basel) 13 (5): , 2021. [PUBMED Abstract]
2. Wu MK, Goudie C, Druker H, et al.: Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome. Pediatr Blood Cancer 63 (7): 1272-5, 2016. [PUBMED Abstract]
3. Dehner LP, Messinger YH, Schultz KA, et al.: Pleuropulmonary Blastoma: Evolution of an Entity as an Entry into a Familial Tumor Predisposition Syndrome. Pediatr Dev Pathol 18 (6): 504-11, 2015 Nov-Dec. [PUBMED Abstract]
4. Doros LA, Rossi CT, Yang J, et al.: DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma. Mod Pathol 27 (9): 1267-80, 2014. [PUBMED Abstract]
5. Cajaiba MM, Khanna G, Smith EA, et al.: Pediatric cystic nephromas: distinctive features and frequent DICER1 mutations. Hum Pathol 48: 81-7, 2016. [PUBMED Abstract]
6. Li Y, Pawel BR, Hill DA, et al.: Pediatric Cystic Nephroma Is Morphologically, Immunohistochemically, and Genetically Distinct From Adult Cystic Nephroma. Am J Surg Pathol 41 (4): 472-481, 2017. [PUBMED Abstract]

References

1. Schoettler PJ, Smith CC, Nishitani M, et al.: Anaplastic sarcoma of the kidney (DICER1-sarcoma of the kidney): A report from the International Pleuropulmonary Blastoma/DICER1 Registry. Pediatr Blood Cancer 71 (8): e31090, 2024. [PUBMED Abstract]
2. Wu MK, Cotter MB, Pears J, et al.: Tumor progression in DICER1-mutated cystic nephroma-witnessing the genesis of anaplastic sarcoma of the kidney. Hum Pathol 53: 114-20, 2016. [PUBMED Abstract]
3. Doros LA, Rossi CT, Yang J, et al.: DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma. Mod Pathol 27 (9): 1267-80, 2014. [PUBMED Abstract]
4. Wu MK, Goudie C, Druker H, et al.: Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome. Pediatr Blood Cancer 63 (7): 1272-5, 2016. [PUBMED Abstract]
5. González IA, Stewart DR, Schultz KAP, et al.: DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma. Mod Pathol 35 (1): 4-22, 2022. [PUBMED Abstract]
6. Wu MK, Vujanic GM, Fahiminiya S, et al.: Anaplastic sarcomas of the kidney are characterized by DICER1 mutations. Mod Pathol 31 (1): 169-178, 2018. [PUBMED Abstract]
7. Yoshida M, Hamanoue S, Seki M, et al.: Metachronous anaplastic sarcoma of the kidney and thyroid follicular carcinoma as manifestations of DICER1 abnormalities. Hum Pathol 61: 205-209, 2017. [PUBMED Abstract]
8. Apellaniz-Ruiz M, Colón-González G, Perlman EJ, et al.: A child with neuroblastoma and metachronous anaplastic sarcoma of the kidney: Underlying DICER1 syndrome? Pediatr Blood Cancer 67 (12): e28488, 2020. [PUBMED Abstract]
9. Kroll-Wheeler L, Heider A: Anaplastic Sarcoma of the Kidney With Heterologous Ganglioneuroblastic Differentiation: Another DICER1-Associated Tumor. Pediatr Dev Pathol 25 (2): 186-191, 2022 Mar-Apr. [PUBMED Abstract]
10. Antonescu CR, Reuter VE, Keohan ML, et al.: DICER1-Associated Anaplastic Sarcoma of the Kidney With Coexisting Activating PDGFRA D842V Mutations and Response to Targeted Kinase Inhibitors in One Patient. JCO Precis Oncol 6: e2100554, 2022. [PUBMED Abstract]
11. Fraire CR, Mallinger PR, Hatton JN, et al.: Intronic Germline DICER1 Variants in Patients With Sertoli-Leydig Cell Tumor. JCO Precis Oncol 7: e2300189, 2023. [PUBMED Abstract]

References

1. Blas L, Roberti J: Primary Renal Synovial Sarcoma and Clinical and Pathological Findings: a Systematic Review. Curr Urol Rep 22 (4): 25, 2021. [PUBMED Abstract]
2. Schoolmeester JK, Cheville JC, Folpe AL: Synovial sarcoma of the kidney: a clinicopathologic, immunohistochemical, and molecular genetic study of 16 cases. Am J Surg Pathol 38 (1): 60-5, 2014. [PUBMED Abstract]
3. Argani P, Faria PA, Epstein JI, et al.: Primary renal synovial sarcoma: molecular and morphologic delineation of an entity previously included among embryonal sarcomas of the kidney. Am J Surg Pathol 24 (8): 1087-96, 2000. [PUBMED Abstract]

References

1. Perlman EJ, Faria P, Soares A, et al.: Hyperplastic perilobar nephroblastomatosis: long-term survival of 52 patients. Pediatr Blood Cancer 46 (2): 203-21, 2006. [PUBMED Abstract]
2. Furtwängler R, Schmolze M, Gräber S, et al.: Pretreatment for bilateral nephroblastomatosis is an independent risk factor for progressive disease in patients with stage V nephroblastoma. Klin Padiatr 226 (3): 175-81, 2014. [PUBMED Abstract]
3. Ehrlich PF, Tornwall B, Chintagumpala MM, et al.: Kidney Preservation and Wilms Tumor Development in Children with Diffuse Hyperplastic Perilobar Nephroblastomatosis: A Report from the Children's Oncology Group Study AREN0534. Ann Surg Oncol 29 (5): 3252-3261, 2022. [PUBMED Abstract]

Cancer in children and adolescents is rare, although the overall incidence has slowly increased since 1975.[1] Children and adolescents with cancer should be referred to medical centers that have a multidisciplinary team of cancer specialists with experience treating the cancers that occur during childhood and adolescence. This multidisciplinary team approach incorporates the skills of the following pediatric specialists and others to ensure that children receive treatment, supportive care, and rehabilitation to achieve optimal survival and quality of life:

For specific information about supportive care for children and adolescents with cancer, see the summaries on Supportive and Palliative Care.

The American Academy of Pediatrics has outlined guidelines for pediatric cancer centers and their role in the treatment of children and adolescents with cancer.[2] At these centers, clinical trials are available for most types of cancer that occur in children and adolescents, and the opportunity to participate is offered to most patients and their families. Clinical trials for children and adolescents diagnosed with cancer are generally designed to compare potentially better therapy with current standard therapy. Other types of clinical trials test novel therapies when there is no standard therapy for a cancer diagnosis. Most of the progress in identifying curative therapies for childhood cancers has been achieved through clinical trials. Information about ongoing clinical trials is available from the NCI website.

References

1. Smith MA, Seibel NL, Altekruse SF, et al.: Outcomes for children and adolescents with cancer: challenges for the twenty-first century. J Clin Oncol 28 (15): 2625-34, 2010. [PUBMED Abstract]
2. American Academy of Pediatrics: Standards for pediatric cancer centers. Pediatrics 134 (2): 410-4, 2014. Also available online. Last accessed August 23, 2024.

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.

Wilms Tumor

Added text to state that a study that used the International WAGR Syndrome Association survey found that 64 of 145 children developed Wilms tumor. Most children had unilateral stage I or stage II Wilms tumors and favorable histology. One child developed bilateral Wilms tumors. Two children presented with stage IV disease, both with favorable histology (cited Tracy et al. as reference 18).

Added Chan et al. as reference 188.

Added WAGR syndrome and Wilms tumor outcomes as a new subsection.

This summary is written and maintained by the PDQ Pediatric Treatment Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® Cancer Information for Health Professionals pages.