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- W2071130151 abstract "Objective: Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors known to produce and secrete high levels of circulating catecholamines and their metabolites. The biochemical characteristics of these tumors can be used to divide them into three major phenotypes. The adrenergic, noradrenergic and dopaminergic phenotypes are defined by predominant elevations in epinephrine and metanephrine, norepinephrine and normetanephrine, and dopamine and 3-methoxytyramine, respectively. There are over 15 well-identified tumor-susceptibility genes responsible for approximately 40% of the cases. The objective of this review article is to outline specific genotype/biochemical phenotype relationships.Methods: Literature review.Results: None.Conclusion: Biochemical phenotype of PPGL is determined by the underlying genetic mutation and the associated molecular pathway. Identification of genotype/biochemical relationships is valuable in prioritizing testing for specific genes, making treatment decisions and monitoring disease progression.Abbreviations: 3-MT = 3-methoxytyramine; EPAS1 = endothelial pas domain protein 1; FH = fumarate hydratase; HIF2A = hypoxia inducible factor type 2A; MEN2 = multiple endocrine neoplasia type 2; NF1 = neurofibromatosis type 1; PNMT = phenylethanolamine N-methyltransferase; PPGL = pheochromocytoma and paraganglioma; RET = rearranged during transfection; SDH = succinate dehydrogenase; SDHAF2 = succinate dehydrogenase complex assembly factor 2; TCA = tricarboxylic acid; TH = tyrosine hydroxylase; TMEM127 = transmembrane protein 127; VHL = von Hippel-Lindau" @default.
- W2071130151 created "2016-06-24" @default.
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- W2071130151 date "1963-06-01" @default.
- W2071130151 modified "2023-09-27" @default.
- W2071130151 title "On the state of a binary gas mixture near a catalytic surface" @default.
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- W2071130151 doi "https://doi.org/10.1016/0021-9517(63)90050-2" @default.
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