Importance of diagnosis and surveillance of patients with genetic predisposition to cancer: regarding the TP53 gene
Importancia del diagnóstico y la vigilancia de pacientes con predisposición genética al cáncer: a propósito del gen TP53
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Li-Fraumeni Syndrome (LFS; OMIM #151623) is a hereditary cancer predisposition syndrome with an autosomal dominant inheritance pattern and a high risk of developing early-onset neoplasms at any life stage. The tumor spectrum is broad and most frequently includes tumors of the central nervous system, adrenocortical carcinoma, osteosarcomas, sarcomas, malignant hematological neoplasms, and breast cancer. Rare neoplasms such as choroid plexus tumors, acute lymphoblastic leukemia with hypodiploidy, anaplastic rhabdomyosarcoma, sonic hedgehog subtype medulloblastoma (SHH), and osteosarcoma are highly suggestive of LFS.
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