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Inherited Predisposition to Cancer

The exact cause of osteosarcoma is unknown, but several diseases can be inherited that make a person more likely to develop many types of cancer, including Osteosarcoma. These diseases include retinoblastoma, Li Fraumeni syndrome, Rothmund-Thomson syndrome, Paget's disease, and Werner's syndrome. The body has several built-in weapons to fight the abnormal cell growth involved in cancer. Diseases that cause an inherited predisposition to cancer have one or more of these weapons missing or not working properly so that a person who inherits the DNA changes has a higher risk of developing different types of cancer, including osteosarcoma. Some cancer predisposition diseases "run in the family," so within a family several members may have these DNA changes and may develop cancers of varying types.

Retinoblastoma is a rare eye tumor usually diagnosed in infants. The combination of a mutated retinoblastoma germline and radiation therapy is associated with a particularly high risk of osteosarcoma development.

Li-Fraumeni syndrome is a familial cancer syndrome (it runs in the family), and affected family members display a spectrum of cancers. These could include breast cancer, brain tumors, leukemia, and osteosarcoma. Li-Fraumeni is very rare and is caused by a mutation in a gene called p53, which contains the blueprint for an important protective weapon.

Rothmund-Thomson syndrome is a very rare inherited disease characterized by small stature, sparse hair, skin abnormalities, cataracts, and bone defects. Rothmund-Thomson is associated with an increased risk of osteosarcoma and is typically diagnosed around age 9, which is earlier than most osteosarcoma diagnoses.

Paget's disease involves abnormal loss and regrowth of bone tissue in adults. Osteosarcomas in people over age 40 are almost always associated with Paget's disease. Other bone abnormalities are also associated with an increased risk of osteosarcoma.

Werner's syndrome is a rare inherited disease causing symptoms of premature aging. Werner's syndrome is associated with an increased risk of cancer including melanoma, thyroid cancer, and osteosarcoma.