IMPLICATIONS OF MUTATIONS IN THE EPAS1 GENE IN THE PATHOGENESIS AND MANAGEMENT OF VON HIPPEL-LINDAU DISEASE
DOI:
https://doi.org/10.52832/jesh.v6i2.658Keywords:
EPAS 1, Neoplasm, Von Hippel-LindauAbstract
Von Hippel-Lindau (VHL) disease is a rare autosomal dominant hereditary syndrome characterized by the development of benign and malignant tumors. The diagnosis is based on clinical criteria combined with laboratory tests, imaging studies, and genetic testing, considering specific findings according to the presence or absence of a family history. Several genes are associated with the disease, including VHL and EPAS1, the latter located on chromosome 2p21 and widely expressed in different human tissues. This study aimed to analyze the main mutations of the EPAS1 gene in the context of Von Hippel-Lindau disease. An ecological study was conducted using secondary data obtained from public databases, including NCBI and ClinVar, for mutation identification, as well as a literature review performed in PubMed, SciELO, and LILACS, considering studies published over the last ten years. Ninety-four genes related to VHL disease were identified in the platforms, with EPAS1 being one of the most studied. Thirteen mutations were found in the EPAS1 gene, six of which were classified as pathogenic missense variants. These mutations were associated with different clinical manifestations of VHL, including hemangioblastomas, pheochromocytomas, renal cell carcinoma, pancreatic neuroendocrine tumors, and renal cysts. The identified alterations affect proteins involved in cellular responses to hypoxia, contributing to tumor development. In conclusion, EPAS1 gene mutations play a relevant role in the pathophysiology of Von Hippel-Lindau disease and affect fundamental vital activities.
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