ScholarWorks@성균관대학교

초록

Li-Fraumeni syndrome (LFS) is a rare inherited cancer predisposition syndrome caused by germline mutations in the TP53 tumor suppressor gene. It predisposes affected individuals to a wide spectrum of early-onset malignancies, including sarcomas, breast cancer, brain tumors, and adrenocortical carcinoma. Advances in genetic testing and risk management strategies have enhanced the identification and clinical management of LFS patients. Comprehensive surveillance has demonstrated increased survival rates through proactive screening. Beyond surveillance, research is exploring novel approaches such as liquid biopsy for early cancer detection and chemoprevention strategies, including metformin trials, to mitigate cancer risk. This review discusses the molecular basis, clinical spectrum, surveillance strategies, and emerging research in LFS.

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