Targeted Molecular Characterization of Aldosterone-Producing Adenomas in White Americans.

ABSTRACT:

Context

Somatic mutations have been identified in more than half of aldosterone-producing adenomas (APAs) through mutation hotspot sequencing. The underlying pathogenesis of inappropriate aldosterone synthesis in the remaining population is still unknown.

Objective

To investigate the prevalence and spectrum of somatic mutations in APAs using an aldosterone synthase (CYP11B2) immunohistochemistry (IHC)‒guided next-generation sequencing (NGS) approach.

Methods

Formalin-fixed paraffin-embedded adrenal tissue from white American patients with primary aldosteronism who underwent adrenalectomy at the University of Michigan was used. Genomic DNA was isolated from 75 APAs (identified by CYP11B2 IHC). NGS was performed to identify somatic mutations by sequencing the entire cod

SUBMITTER: Nanba K 

PROVIDER: S-EPMC6179168 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature