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Osteosarcoma and Malignant Fibrous Histiocytoma of Bone Treatment (PDQ®)

  • Updated: 05/23/2013

Table 1. Genetic Diseases That Predispose to Osteosarcomaa

Syndrome  Location  Gene  Function 
aTable adapted from Kansara and Thomas.[66]
Bloom syndrome [67]15q26.1BLM (RecQL3)DNA helicase
Diamond-Blackfan anemia [68]Ribosomal proteinsRibosome production [68,69]
Li-Fraumeni syndrome [70]17p13.1P53 DNA damage response
Paget disease [71]18q21-qa22LOH18CR1 IL-1/TNF signaling; RANK signaling pathway
5q31
5q35-qter
Retinoblastoma [72]13q14.2RB1 Cell-cycle checkpoint
Rothmund-Thomson syndrome [65,73]8q24.3RTS (RecQL4)DNA helicase
Werner syndrome [74]8p12-p11.2WRN (RecQL2)DNA helicase; exonuclease activity

References

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  2. Kansara M, Thomas DM: Molecular pathogenesis of osteosarcoma. DNA Cell Biol 26 (1): 1-18, 2007.  [PUBMED Abstract]

  3. German J: Bloom's syndrome. XX. The first 100 cancers. Cancer Genet Cytogenet 93 (1): 100-6, 1997.  [PUBMED Abstract]

  4. Lipton JM, Federman N, Khabbaze Y, et al.: Osteogenic sarcoma associated with Diamond-Blackfan anemia: a report from the Diamond-Blackfan Anemia Registry. J Pediatr Hematol Oncol 23 (1): 39-44, 2001.  [PUBMED Abstract]

  5. Idol RA, Robledo S, Du HY, et al.: Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production. Blood Cells Mol Dis 39 (1): 35-43, 2007 Jul-Aug.  [PUBMED Abstract]

  6. Li FP, Fraumeni JF Jr, Mulvihill JJ, et al.: A cancer family syndrome in twenty-four kindreds. Cancer Res 48 (18): 5358-62, 1988.  [PUBMED Abstract]

  7. Grimer RJ, Cannon SR, Taminiau AM, et al.: Osteosarcoma over the age of forty. Eur J Cancer 39 (2): 157-63, 2003.  [PUBMED Abstract]

  8. Wong FL, Boice JD Jr, Abramson DH, et al.: Cancer incidence after retinoblastoma. Radiation dose and sarcoma risk. JAMA 278 (15): 1262-7, 1997.  [PUBMED Abstract]

  9. Wang LL, Gannavarapu A, Kozinetz CA, et al.: Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst 95 (9): 669-74, 2003.  [PUBMED Abstract]

  10. Goto M, Miller RW, Ishikawa Y, et al.: Excess of rare cancers in Werner syndrome (adult progeria). Cancer Epidemiol Biomarkers Prev 5 (4): 239-46, 1996.  [PUBMED Abstract]