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• W2800295931 endingPage "87" @default.
• W2800295931 startingPage "63" @default.
• W2800295931 abstract "Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine neoplasias that develop in the adrenal medulla or in the paravertebral extra-adrenal ganglia. Although they are more commonly benign (~75%) than malignant (~25%), they can be associated with a high degree of morbidity and a substantial mortality due to the hypersecretion of catecholamines or mass effects. Although PCC/PGL occur more commonly as sporadic tumors, about 30–40% are inherited and associated with predisposing germline mutations in more than 15 susceptibility genes. Several classic autosomal dominant tumor syndromes (von Hippel-Lindau, neurofibromatosis type 1, multiple endocrine neoplasia type 2) are associated with an increased risk for the development of PCC/PGL. Mutations in the TMEM127, MAX, MDH2, FH, and EPAS1/HIF2A genes, among others, can be associated with PCC/PGL, and mutations in the genes encoding the succinate dehydrogenase (SDH) subunits A, B, C, and D or its cofactor SDHAF2 lead to a predisposition to developing paragangliomas (paraganglioma syndrome types 1–5)." @default.
• W2800295931 created "2018-05-17" @default.
• W2800295931 creator A5058869011 @default.
• W2800295931 date "2018-01-01" @default.
• W2800295931 modified "2023-09-27" @default.
• W2800295931 title "Heritable and Syndromic Pheochromocytoma and Paraganglioma" @default.
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