Li-Fraumeni syndrome


Li-Fraumeni syndrome

SBLA syndrome An AD condition with ↑ risk of multiple malignancies––eg, sarcomas, carcinomas of adrenal cortex, breast, larynx and lung, brain tumors, leukemia and lymphomas at any time from infancy to adulthood, due to a defect in the p53 tumor suppressor gene

Li-Fraumeni syndrome

[Fredrick Pei Li, Chinese-born U.S. epidemiologist, b. 1940; Joseph F. Fraumeni, Jr., U.S. epidemiologist, b. 1933] An inherited condition in which individuals develop multiple primary tumors, including breast cancer, osteosarcoma, chondrosarcoma, soft tissue sarcoma, brain tumors, adrenal cortex tumors, etc. Mutations of the p53 gene on chromosome 17 are responsible for this disease.