New Research Reveals Link Between Gene Mutation and Osteosarcoma

Osteosarcoma occurs when a proliferation of osteoblasts combines with a malignant bone tumor. Osteosarcoma may appear in a patient of any age; however, this cancer is seen more frequently during adolescence. The most common location for osteosarcoma is the long bones of the leg just below the knee. The jaw, shoulder, and hip are also common sites for osteosarcoma. According to new research published in the Journal of the National Cancer Institute, in April 2015, an inherited gene mutation may be responsible for osteosarcoma in some young patients.

A research team from the National Cancer Institute, (NCI) Division of Cancer Epidemiology and Genetics, led by Lisa Mirabello PhD., uncovered startling research involving osteosarcoma in young patients. The team discovered mutations in the gene, known as TP53, in young patients that were not seen in adult-onset osteosarcoma. Adolescents are more susceptible to osteosarcoma between the age of 10 and 19.

A cancer predisposition, Li Fraumeni Syndrome, (LFS), is related to the TP53 inherited gene mutation. However, osteosarcoma may occur in families that are not established carriers of LFS. LFS is a rare malady that enhances the opportunity of developing cancer, including brain tumor, breast cancer, leukemia, cancer of the adrenal glands, osteosarcoma and other forms of cancer. 

During the testing phase of the theory, researchers gathered DNA from cells for sequencing from blood or mouth tissue from 765 osteosarcoma patients. Among osteosarcoma patients under the age of thirty, the study showed a high percentage of patients contained the TP53 gene variation. A slightly lower percentage of patients contained the LFS associated germline mutation for TP53.

Patients with the LFS associated mutation link with TP53 carry a substantial risk for additional cancer. Family members of the patients may be at high risk for cancer also. Further testing is needed to understand why osteosarcoma develops in patients without the TP53 gene mutation.


*Photo courtesy of DNA’s Doorway by Paola at Flickr’s Creative Commons.



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