What causes osteosarcoma?

Updated: Dec 04, 2018
  • Author: Charles T Mehlman, DO, MPH; Chief Editor: Omohodion (Odion) Binitie, MD  more...
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Answer

The exact cause of osteosarcoma is unknown. However, a number of risk factors have been identified. [3, 4, 5, 6, 7, 9, 10, 11, 12, 13, 14, 15, 16]

Rapid bone growth appears to predispose persons to osteosarcoma, as suggested by the increased incidence during the adolescent growth spurt, the high incidence among large-breed dogs (eg, Great Dane, St Bernard, German shepherd), and osteosarcoma's typical location in the metaphyseal area adjacent to the growth plate (physis) of long bones.

Genetic predisposition plays a role. Bone dysplasias, including Paget disease, fibrous dysplasia, enchondromatosis, and hereditary multiple exostoses and retinoblastoma (germline form) are risk factors. The combination of constitutional mutation of the RB gene (germline retinoblastoma) and radiation therapy is linked with a particularly high risk of developing osteosarcoma, Li-Fraumeni syndrome (germline p53 mutation), and Rothmund-Thomson syndrome (autosomal recessive association of congenital bone defects, hair and skin dysplasias, hypogonadism, and cataracts).

The only known environmental risk factor is exposure to radiation. Radiation-induced osteosarcoma is a form of secondary osteosarcoma and is not discussed further in this article.


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