Li-Fraumeni syndrome (LFS) is a rare autosomal disorder characterized by a familial clustering of tumors, with a predominance of sarcomas, breast cancers, brain tumors, and adrenocortical carcinomas, diagnosed before the age of 45. Other cancers, including choroid plexus tumor, rhabdomyosarcoma of embryonal anaplastic subtype, leukemia, lung cancer, gastric cancer, skin melanoma, pancreatic cancer, and ovarian cancer, are also present in excess in some families, and in some cases, germ cell tumors, choroid plexus papilloma, and Wilms’ tumor have been reported as part of the spectrum.
Proband with sarcoma before the age of 45
A first-degree relative with any tumor before age 45
Another close relative (second or first degree) with cancer before age 45 or a sarcoma at any age