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Acta Medica Colombiana
versão impressa ISSN 0120-2448
Resumo
INSUASTY-ENRIQUEZ, JESÚS SOLIER et al. Li-Fraumeni Syndrome. Metachronous presentation of soft-tissue sarcoma, heart sarcoma and gastric cancer. Acta Med Colomb [online]. 2022, vol.47, n.1, pp.41-43. Epub 06-Maio-2022. ISSN 0120-2448. https://doi.org/10.36104/amc.2022.2198.
Li-Fraumeni syndrome (LFS) is a hereditary autosomal dominant disorder with a predisposition to cancer. It is associated with abnormalities of the tumor protein p53 (TP53) gene, manifesting with a broad range of malignant neoplasms which appear at an early age. We discuss the case of a young adult in whom we did this diagnosis, and we describe the therapeutic perspectives being researched. (Acta Med Colomb 2022; 47. DOI:https://doi.org/10.36104/amc.2022.2198).
Palavras-chave : Li-Fraumeni syndrome; soft-tissue sarcomas; gastric cancer; cardiac tumor.