Evaluating a possible association between promoter methylation level of genes encoding catecholamine metabolizing enzymes and metanephrine secretion in pheochromocytoma and paraganglioma

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Introduction: Paragangliomas (PPGLs) are rare neuroendocrine tumors that may secrete catecholamines and their metabolites (metanephrines [MN], normetanephrine [NMN]). Secretion patterns differ by adrenal/extra-adrenal origin and genetic alteration. Catecholamines synthesis is carried by phenylalanine hydroxylase (PAH), tyrosine hydroxylase (TH), aromaticL-aminoacid decarboxylase (AADC), dopamine β-hydroxylase (DBH) and phenylethanolamine N-methyltransferase (PNMT). However, their regulation in PPGL is not entirely understood.

Aim(s): Assess whether epigenetic gene regulation of catecholamine synthesis leads to distinct MN and NMN secretion patterns in PPGLs.

Materials and methods: PPGL methylation data from 178 samples were collected from a public database. We analysed CpGs methylation of PAH, TH, AADC, DBH, and PNMT and compared MN and NMN secretion and genetic alteration subgroups (pseudohypoxia [PH], kinase signaling [KS]) by methylation levels.

Conference:

Presenting Author: Tirosh A

Authors: Kaplinsky A, Halperin R, Shlomai G, Tirosh A,

Keywords: ppgl, methylation, catecholamine, pseudohypokia, metanephrine, kinase signaling, pheochromocytoma, paraganglioima,