Genetic, epigenetic and/or transcriptional profiling of 14q genes, MAX and MEG3 in pituitary neuroendocrine tumors

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Introduction: Recent studies have identified a growing series of susceptibility genes for pituitary neuroendocrine tumors (PitNETs) and pheochromocytomas/paragangliomas (PPGL). Some of these genes (e.g., SDH genes) have be specifically associated with the development of these pathologies.

Aim(s): In contrast, the presence of the recently discovered PPGL susceptibility genes MAX (MYC-associated factor X gene) and MEG3 (an imprinted gene located close to MAX, which arose as a marker of uniparental disomy in MAX-mutated PPGLs) have been poorly explored in PitNETs.

Materials and methods: Thus, to explore whether MAX and/or MEG3 are associated to pituitary tumorigenesis, we analysed MAX genomic sequence [by denaturing high-performance liquid chromatography (dHPLC)] in a cohort of 148 pituitary samples [71 Non-Functioning pituitary tumors (NFPTs), 40 somatotropinomas, 19 corticotropinomas, 10 prolactinomas, 1 gonadotropinoma and 7 normal pituitaries], together with the analysis of MAX and MEG3 expression (by qPCR) and/or methylation-status (using bisulfite modification and methylation-specific PCR). We also used a validation cohort of a set of 134 pituitary samples (E-MTAB-7768).

Conference:

Presenting Author: Ibáñez Costa A

Authors: Ibáñez-Costa A, Letón R, Rivero-Cortés E, Álvarez-Escolá C, Rodriguez Poyo-Guerrero P,

Keywords: pituitary tumor, epigenetics, MAX, genomics,