FaCD Online Syndrome Fact Sheet

Last updated: 02 Jul 2008

Name: Osteosarcoma, Familial Clustering of

Synonym: Familial Osteogenic Sarcoma

Mode of Inheritance: mutlifact?/ AR?/ AD?

Genes

HLA-A, mapped to 6p21.3
TP53, mapped to 17p13.1

Tumor features

osteosarcoma

Comment

Familial clustering of osteosarcoma, in the absence of Paget disease, has been reported[1-4] and has been reviewed by Hillmann et al.[5].

Osteosarcoma has been suggested to be associated with the HLA-A 11 phenotype[6]. Germline TP53 mutations in the absence of a (Li-Fraumeni syndrome (like)) family history of cancer have been found in patients with osteosarcoma, but the chance for sporadic osteosarcoma patients to carry such mutations is probably low (less than the estimated 1-2% for all types of sarcoma combined)[7].

References

[1] Robbins R. Familial osteosarcoma fifth reported occurrence. JAMA 1967; 202(11):143.
[2] Colyer RA. Osteogenic sarcoma in siblings. Johns Hopkins Med J 1979; 145:131-135.
[3] Gilman PA, Wang N, Fan SF, Reede J, Khan A, Leventhal BG. Familial osteosarcoma associated with 13;14 chromosomal reaarrangement. Cancer Genet Cytogenet 1985; 17:123-132.
[4] Nishida J, Abe M, Shiraishi H, Shimamura T, Tamura G, Satoh T, Ehara S. Familial occurrence of telangiectatic osteosarcoma cousin cases. J Pediat Orthoped 1994; 14:119-122.
[5] Hillmann A, Ozaki T, Winkelmann W. Familial occurrence of osteosarcoma. A case report and review of the literature. J Cancer Res Clin Oncol 2000; 126(9):497-502.
[6] Shimizu T, Chigira M, Nagase M, Watanabe H, Udagawa E. HLA phenotypes in patients who have osteosarcoma. J Bone Joint Surg Am 1990; 72(1):68-70.
[7] Toguchida J, Yamaguchi T, Dayton SH, Beauchamp RL, Herrera GE, Ishizaki K, Yamamuro T, Meyers PA, Little JB, Sasaki MS, Weichselbaum RR, Yandell DW. Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma [see comments]. NEJM 1992; 326(20):1301-1308.