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Rhabdoid Tumor Predisposition Syndrome Type 2 (PDQ®)–Health Professional Version

Introduction

Rhabdoid tumor predisposition syndrome type 2 (RTPS2) is caused by germline (or hereditary) loss-of-function pathogenic variants in the SMARCA4 gene, which is located on chromosome 19p13.[1] RTPS2 is an autosomal dominant disorder. Individuals with SMARCA4 pathogenic variants have an increased risk to develop small cell carcinoma of the ovary hypercalcemic type (SCCOHT) and, rarely, atypical teratoid/rhabdoid tumors (AT/RT). The risk of developing extracranial rhabdoid tumors and other rare tumors is currently unknown. Germline SMARCA4 pathogenic or likely pathogenic variants have been identified in individuals with neuroblastoma, suggesting that SMARCA4 could also be a neuroblastoma susceptibility gene.[2]

References
  1. Nemes K, Bens S, Bourdeaut F, et al.: Rhabdoid Tumor Predisposition Syndrome. In: Adam MP, Feldman J, Mirzaa GM, et al., eds.: GeneReviews. University of Washington, Seattle, 1993-2024, pp. Available online. Last accessed February 25, 2025.
  2. Witkowski L, Nichols KE, Jongmans M, et al.: Germline pathogenic SMARCA4 variants in neuroblastoma. J Med Genet 60 (10): 987-992, 2023. [PUBMED Abstract]

Nomenclature for Rhabdoid Tumor Predisposition Syndrome Type 2

Individuals who harbor germline SMARCA4 pathogenic variants have rhabdoid tumor predisposition syndrome type 2 (RTPS2).[1] Nomenclature for genetic disorders continues to evolve. Future terminology for these disorders may reflect the proposed dyadic naming approach, incorporating gene and phenotype.[2]

References
  1. Samples, Phenotypes and Ontologies Team: Rhabdoid Tumor Predisposition Syndrome 2. Ontology Lookup Service European Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI), 2023. Available online. Last accessed October 17, 2023.
  2. Biesecker LG, Adam MP, Alkuraya FS, et al.: A dyadic approach to the delineation of diagnostic entities in clinical genomics. Am J Hum Genet 108 (1): 8-15, 2021. [PUBMED Abstract]

Genetics of Rhabdoid Tumor Predisposition Syndrome Type 2

Molecular Genetics of Rhabdoid Tumor Predisposition Syndrome Type 2 (RTPS2)

The SMARCA4 gene encodes the SMARCA4 protein (also called BRG1), a member of the SWI/SNF chromatin remodeling complex, which helps control gene transcription. Individuals with deleterious germline SMARCA4 variants (typically loss-of-function variants) are diagnosed with RTPS2. In RTPS2, tumor development follows the Knudson two-hit hypothesis, in which tumors are driven by the inactivation of both copies of the SMARCA4 gene. Inactivation of SMARCA4 nearly always results in loss of SMARCA4/BRG1 protein expression. Rare cases of small cell carcinoma of the ovary hypercalcemic type (SCCOHT) have been described with retained SMARCA4 immunoreactivity, despite the presence of SMARCA4 pathogenic variants or loss of heterozygosity detected via molecular testing.[1]

While most hereditary non-SCCOHT rhabdoid tumor cases are caused by SMARCB1 pathogenic variants and lead to rhabdoid tumor predisposition syndrome type 1 (RTPS1), approximately 2% to 3% of rhabdoid tumor cases are caused by SMARCA4 pathogenic variants.[2] Intracranial atypical teratoid/rhabdoid tumors (AT/RTs) are seen more often than extracranial rhabdoid tumors in people with RTPS2.[3] Data are scarce, given the rarity of SMARCA4-associated AT/RTs. However, it has been suggested that the rate of germline cases is higher in SMARCA4-associated AT/RTs than in those with loss of SMARCB1.[4] Germline SMARCA4 pathogenic variants associated with RTPS2 lead to a loss of function, most often via nonsense variants and intragenic deletions.

On the other hand, germline SMARCA4 pathogenic variants are detected in approximately 40% of women with SCCOHT, a rare and aggressive tumor. Somatic variation in these tumors is typically caused by nonsense or frameshift variants. However, loss of the short arm of chromosome 19 and missense variants have also been seen.[5,6] Some investigators have suggested that SCCOHT be called malignant rhabdoid tumor of the ovary (MRTO) and be included in the group of RTPS2-associated tumors.[3]

Inheritance of RTPS2

RTPS2 is an autosomal dominant cancer predisposition disorder. The penetrance of RTPS2 appears to be incomplete. Studies using population-scale genomic ascertainment have not been conducted. Data suggest that SMARCA4 variants in RTPS2 are inherited more often than SMARCB1 variants in RTPS1. In a small cohort study, six of seven patients inherited SMARCA4 pathogenic variants from an unaffected parent.[4] It is recommended that family members of SMARCA4 carriers consider genetic testing. Testing is also recommended for affected patients.[7]

Related Conditions

Germline SMARCA4 variants have also been identified in individuals with Coffin-Siris syndrome (CSS).[8] However, unlike loss-of-function SMARCA4 variants in RTPS2, individuals with CSS typically have nontruncating missense SMARCA4 variants. In a patient with a germline nonsense SMARCA4 variant, a mild CSS presentation and a SCCOHT diagnosis were described.[8] However, individuals with CSS who carry nontruncating SMARCA4 variants are not at risk of developing rhabdoid tumors.

References
  1. Mazibrada J, Jayatunge N, Domecq C, et al.: Unusual Aspects of Small Cell Carcinoma of the Ovary of Hypercalcaemic Type: Retained SMARCA4 Immunohistochemical Staining and Positive Staining With TLE1. Am J Surg Pathol 47 (11): 1261-1266, 2023. [PUBMED Abstract]
  2. Del Baldo G, Carta R, Alessi I, et al.: Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management. Front Oncol 11: 586288, 2021. [PUBMED Abstract]
  3. Foulkes WD, Clarke BA, Hasselblatt M, et al.: No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour. J Pathol 233 (3): 209-14, 2014. [PUBMED Abstract]
  4. 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]
  5. Witkowski L, Goudie C, Foulkes WD, et al.: Small-Cell Carcinoma of the Ovary of Hypercalcemic Type (Malignant Rhabdoid Tumor of the Ovary): A Review with Recent Developments on Pathogenesis. Surg Pathol Clin 9 (2): 215-26, 2016. [PUBMED Abstract]
  6. Weyandt JD, Young C, Carraway C, et al.: Small-cell carcinoma of the ovary, hypercalcemic type (SCCOHT) has approximately 20-30% penetrance in individuals carrying loss-of-function mutations in SMARCA4. [Abstract] Fam Cancer 22: A-P063, 373, 2023. Also available online. Last accessed January 28, 2025.
  7. 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]
  8. Errichiello E, Mustafa N, Vetro A, et al.: SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. J Pathol 243 (1): 9-15, 2017. [PUBMED Abstract]

Cancer Risks, Spectrum, and Characteristics of Rhabdoid Tumor Predisposition Syndrome Type 2

Up to 40% of females with small cell carcinoma of the ovary hypercalcemic type (SCCOHT) harbor germline SMARCA4 pathogenic variants.[1,2] Multiple family members can be affected.[3] In women with SCCOHT who did not have germline SMARCA4 pathogenic variants, one somatic SMARCA4 variant was almost always found.[2] A retrospective review of 48 SCCOHT tumors sequenced at a diagnostic lab found 18 tumors (37.5%) with germline SMARCA4 pathogenic variants. The remainder were somatic SMARCA4 variants, indeterminate, or unknown. The ages of the 48 women ranged from 8 years to 56 years (median age, 28.5 y).[4] A retrospective review of the Slovenian Cancer Registry identified seven SCCOHT cases from 1991 to 2021 in a country with about 2 million people, giving a minimal SCCOHT incidence of 0.12 cases per 1 million people per year. Of the seven cases, four harbored germline loss-of-function SMARCA4 pathogenic variants. Three tumors harbored somatic SMARCA4 loss-of-function variants. Six of the seven women died of SCCOHT within 27 months of their diagnoses.[5] Ages of people diagnosed with SCCOHT ranged from infancy to 56 years, with an average age of 23.9 years. Penetrance was uncertain but may be considerable. There are known unpublished and published cases of women in their 50s (and older) with germline SMARCA4 pathogenic variants who remain cancer free.[2]

Inactivating SMARCA4 variants have been reported in a rare, aggressive form of uterine sarcoma seen in young women, called SMARCA4-deficient undifferentiated uterine sarcoma (SMARCA4-DUS), also known as a malignant rhabdoid tumor of the uterus.[6,7] A retrospective review of 17 SMARCA4-DUS tumors sequenced at a diagnostic lab found two tumors (11.8%) with germline SMARCA4 pathogenic variants. The remainder were somatic SMARCA4 variants, indeterminate, or unknown. The ages of the two women were 40 years and 55 years.[4]

Germline SMARCA4 pathogenic variants are rarely found in individuals with atypical teratoid/rhabdoid tumors (AT/RTs). SMARCA4-altered AT/RTs may be associated with worse prognoses.[8] Risk of other rhabdoid tumors is unknown but likely low.[9] At least one case report described an unusual lung cancer in a child with a SMARCA4 pathogenic variant.[10]

Clinically aggressive SMARCA4-deficient thoracic sarcomas (SMARCA4-DTS) have been described in adults (typically male smokers), but germline SMARCA4 variants have not been reported.[11-14]

Heterozygous germline SMARCA4 pathogenic variants were reported in 11 individuals with neuroblastoma (eight previously reported cases and four new cases). Nine of these individuals were male. The median age of diagnosis was 5 years (range, 2 mo–26 y), and all but one patient presented in the pediatric age range. Of the 11 patients, one child aged 4 years presented with bilateral neuroblastoma. This child also had a germline CHEK2 pathogenic variant. Eight of nine SMARCA4 variants were expected to result in a loss-of-function variant. The remaining four SMARCA4 variants were missense. There was no clear difference in age of diagnosis between individuals with missense and loss-of-function variants. In the four patients who had MYCN status tested, none showed MYCN amplification. None of the 11 individuals were known to have family histories of SMARCA4-related tumors. In eight cases where somatic testing was performed, loss of heterozygosity was observed, which provides additional support that SMARCA4 is a tumor suppressor. [15]

References
  1. Foulkes WD, Clarke BA, Hasselblatt M, et al.: No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour. J Pathol 233 (3): 209-14, 2014. [PUBMED Abstract]
  2. Tischkowitz M, Huang S, Banerjee S, et al.: Small-Cell Carcinoma of the Ovary, Hypercalcemic Type-Genetics, New Treatment Targets, and Current Management Guidelines. Clin Cancer Res 26 (15): 3908-3917, 2020. [PUBMED Abstract]
  3. Witkowski L, Donini N, Byler-Dann R, et al.: The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases. Fam Cancer 16 (3): 395-399, 2017. [PUBMED Abstract]
  4. Connor YD, Miao D, Lin DI, et al.: Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts. Gynecol Oncol 157 (1): 106-114, 2020. [PUBMED Abstract]
  5. Blatnik A, Dragoš VŠ, Blatnik O, et al.: A Population-Based Study of Patients With Small Cell Carcinoma of the Ovary, Hypercalcemic Type, Encompassing a 30-Year Period. Arch Pathol Lab Med 148 (3): 299-309, 2024. [PUBMED Abstract]
  6. Kolin DL, Dong F, Baltay M, et al.: SMARCA4-deficient undifferentiated uterine sarcoma (malignant rhabdoid tumor of the uterus): a clinicopathologic entity distinct from undifferentiated carcinoma. Mod Pathol 31 (9): 1442-1456, 2018. [PUBMED Abstract]
  7. Lin DI, Allen JM, Hecht JL, et al.: SMARCA4 inactivation defines a subset of undifferentiated uterine sarcomas with rhabdoid and small cell features and germline mutation association. Mod Pathol 32 (11): 1675-1687, 2019. [PUBMED Abstract]
  8. 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]
  9. Del Baldo G, Carta R, Alessi I, et al.: Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management. Front Oncol 11: 586288, 2021. [PUBMED Abstract]
  10. de Kock L, Fahiminiya S, Fiset PO, et al.: Infantile Pulmonary Teratoid Tumor. N Engl J Med 378 (23): 2238-2240, 2018. [PUBMED Abstract]
  11. Le Loarer F, Watson S, Pierron G, et al.: SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas. Nat Genet 47 (10): 1200-5, 2015. [PUBMED Abstract]
  12. Perret R, Chalabreysse L, Watson S, et al.: SMARCA4-deficient Thoracic Sarcomas: Clinicopathologic Study of 30 Cases With an Emphasis on Their Nosology and Differential Diagnoses. Am J Surg Pathol 43 (4): 455-465, 2019. [PUBMED Abstract]
  13. Yoshida A, Kobayashi E, Kubo T, et al.: Clinicopathological and molecular characterization of SMARCA4-deficient thoracic sarcomas with comparison to potentially related entities. Mod Pathol 30 (6): 797-809, 2017. [PUBMED Abstract]
  14. Sauter JL, Graham RP, Larsen BT, et al.: SMARCA4-deficient thoracic sarcoma: a distinctive clinicopathological entity with undifferentiated rhabdoid morphology and aggressive behavior. Mod Pathol 30 (10): 1422-1432, 2017. [PUBMED Abstract]
  15. Witkowski L, Nichols KE, Jongmans M, et al.: Germline pathogenic SMARCA4 variants in neuroblastoma. J Med Genet 60 (10): 987-992, 2023. [PUBMED Abstract]

Management of Rhabdoid Tumor Predisposition Syndrome Type 2

Genetic Counseling of Rhabdoid Tumor Predisposition Syndrome Type 2 (RTPS2)

It is recommended that any female with (1) a personal diagnosis or family history of small cell carcinoma of the ovary hypercalcemic type (SCCOHT) or (2) a personal diagnosis or family history of other rhabdoid tumors receive genetic counseling and be offered SMARCA4 genetic testing. Related boys younger than 5 years are recommended to undergo rhabdoid tumor screening and SMARCA4 cascade genetic testing. It is also appropriate to offer SMARCA4 genetic testing to unaffected males older than 5 years who have family histories of rhabdoid tumors or SCCOHT in female family members. These men may be obligate carriers, and screening recommendations would apply to their children.[1] Shared decision making can be considered (regarding the timing of genetic testing) for boys between the ages of 5 and 18 years, since screening recommendations do not exist for boys older than 5 years. Clinicians must respect the individual's right to choose germline genetic testing.

Surveillance of RTPS2

In 2017, experts in childhood cancer genetics created the first recommendations for cancer surveillance in rhabdoid tumor predisposition syndromes. These recommendations were updated in 2024.[2,3]

Optimal surveillance recommendations for children with RTPS2 have not been established and may be burdensome for many families. For boys and girls younger than 5 years, surveillance of the craniospinal axis is recommended every 4 to 6 weeks from birth to 6 months, then every 3 months until age 5 years, after which surveillance ceases. Clinical examination and abdominal ultrasound are conducted every 3 months until the age of 5 years, when abdominal surveillance stops for boys. For girls, abdominal and pelvic ultrasounds are recommended every 6 months, with no age limit. Abdominal/pelvic ultrasound is a limited surveillance strategy for detecting low-stage SCCOHT that is amenable to curative surgical resection. This surveillance technique has not been validated in patients with SMARCA4 pathogenic variants.[3,4] Alternative recommendations have been made for risk-reducing bilateral salpingo-oophorectomy in first-degree relatives of women diagnosed with SCCOHT. However, timing of such surgeries in girls and young women is challenging to determine.[5-7] Case reports indicated that when young women or girls were affected by SCCOHT, there was a greater impetus for risk-reducing salpingo-oophorectomy, particularly in siblings.[7,8]

Surveillance in Survivorship of RTPS2

For women and girls with SCCOHT, the overall survival rate is approximately 51% for patients with Fédération Internationale de Gynécologie et d’Obstétrique (FIGO) stage I disease and decreases to 24% for patients with stage II to stage IV disease.[9] Since treatment for SCCOHT is surgical removal of the ovary, it is recommended that female patients with germline SMARCA4 pathogenic variants have all ovarian tissue removed (removal of both ovaries plus any localized/metastatic disease, like omental studding) and receive adjuvant chemotherapy.[10] Surveillance imaging would therefore default to long-term follow-up guidelines for survivors of ovarian cancer, as outlined by the National Comprehensive Cancer Network.[11]

For children younger than 5 years who have been diagnosed with atypical teratoid/rhabdoid tumor or malignant rhabdoid tumor, surveillance of unaffected organs can be continued during primary cancer treatment and posttherapy surveillance.[3]

Rhabdoid Tumor Predisposition and Fertility Preservation

RTPS2 presents unique challenges for fertility preservation in women or girls affected by SCCOHT. Prophylactic risk-reducing bilateral salpingo-oophorectomy is recommended for individuals with a high risk of developing SCCOHT. Women or girls with RTPS2 may engage with their institutional fertility preservation program to determine eligibility for egg or ovarian tissue banking. However, published data suggest that the cell of origin for SCCOHT may be a germ cell, raising uncertainty about this approach.[12] Genetic counseling and consideration of preimplantation genetic testing of embryos is advisable.

References
  1. Connor YD, Miao D, Lin DI, et al.: Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts. Gynecol Oncol 157 (1): 106-114, 2020. [PUBMED Abstract]
  2. 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]
  3. Hansford JR, Das A, McGee RB, et al.: Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors. Clin Cancer Res 30 (11): 2342-2350, 2024. [PUBMED Abstract]
  4. Frühwald MC, Nemes K, Boztug H, et al.: Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group. Fam Cancer 20 (4): 305-316, 2021. [PUBMED Abstract]
  5. Pastorczak A, Krajewska K, Urbanska Z, et al.: Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review. Fam Cancer 20 (4): 355-362, 2021. [PUBMED Abstract]
  6. Podwika SE, Jenkins TM, Khokhar JK, et al.: Optimal age for genetic cancer predisposition testing in hereditary SMARCA4 Ovarian Cancer Families: How young is too young? Gynecol Oncol Rep 32: 100569, 2020. [PUBMED Abstract]
  7. Vu JA, Thompson WS, Klinkner DB, et al.: Risk reduction for small cell cancer of the ovary, hypercalcemic type in prepubertal patient: A clinical and bioethical perspective. Gynecol Oncol Rep 49: 101261, 2023. [PUBMED Abstract]
  8. Pejovic T, McCluggage WG, Krieg AJ, et al.: The dilemma of early preventive oophorectomy in familial small cell carcinoma of the ovary of hypercalcemic type. Gynecol Oncol Rep 28: 47-49, 2019. [PUBMED Abstract]
  9. Wens FSPL, Hulsker CCC, Fiocco M, et al.: Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Patient Characteristics, Treatment, and Outcome-A Systematic Review. Cancers (Basel) 15 (15): , 2023. [PUBMED Abstract]
  10. Pressey JG, Dandoy CE, Pater LE, et al.: Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): Comprehensive management of a newly diagnosed young adult. Gynecol Oncol 158 (3): 538-546, 2020. [PUBMED Abstract]
  11. National Comprehensive Cancer Network: NCCN Clinical Practice Guidelines in Oncology: Ovarian Cancer Including Fallopian Tube Cancer and Primary Peritoneal Cancer. Version 3.2024. Plymouth Meeting, Pa: National Comprehensive Cancer Network, 2024. Available online with free registration. Last accessed January 27, 2025.
  12. McCluggage WG, Witkowski L, Clarke BA, et al.: Clinical, morphological and immunohistochemical evidence that small-cell carcinoma of the ovary of hypercalcaemic type (SCCOHT) may be a primitive germ-cell neoplasm. Histopathology 70 (7): 1147-1154, 2017. [PUBMED Abstract]

Latest Updates to This Summary (03/03/2025)

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.

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This summary is written and maintained by the PDQ Cancer Genetics Editorial Board and 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.

About This PDQ Summary

Purpose of This Summary

This PDQ cancer information summary for health professionals provides comprehensive, peer-reviewed, evidence-based information about the genetics, cancer risks, and management of rhabdoid tumor predisposition syndrome type 2. It is intended as a resource to inform and assist clinicians in the care of their patients. It does not provide formal guidelines or recommendations for making health care decisions.

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This summary is reviewed regularly and updated as necessary by the PDQ Cancer Genetics Editorial Board and the PDQ Pediatric Treatment Editorial Board, which are editorially independent of the National Cancer Institute (NCI). The summary reflects an independent review of the literature and does not represent a policy statement of NCI or the National Institutes of Health (NIH).

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The lead reviewers for Rhabdoid Tumor Predisposition Syndrome Type 2 are:

  • Julia Meade, MD (UPMC Children's Hospital of Pittsburgh)
  • Sarah Scollon, MS, CGC (Baylor College of Medicine & Texas Children's Hospital)
  • Douglas Stewart, MD (National Cancer Institute)

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