MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

ABSTRACT:

Background

Uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer (HLRCC) patients are driven by fumarate hydratase (FH) inactivation or occasionally by mediator complex subunit 12 (MED12) mutations. The aim of this study was to analyse whether MED12 mutations and FH inactivation are mutually exclusive and to determine the contribution of MED12 mutations on HLRCC patients' myomagenesis.

Methods

MED12 exons 1 and 2 mutation screening and 2SC immunohistochemistry indicative for FH deficiency was performed on a comprehensive series of HLRCC patients' (122 specimens) and sporadic (66 specimens) tumours. Gene expression analysis was performed using Affymetrix GeneChip Human Exon Arrays (Affymetrix, Santa Clara, CA, USA).

Results

Nine tumours from HLRCC pat

SUBMITTER: Kampjarvi K 

PROVIDER: S-EPMC4984459 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature