Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma.

ABSTRACT:

Context

Primary macronodular adrenal hyperplasia (PMAH) is a rare cause of Cushing's syndrome, which may present in the context of different familial multitumor syndromes. Heterozygous inactivating germline mutations of armadillo repeat containing 5 (ARMC5) have very recently been described as cause for sporadic PMAH. Whether this genetic condition also causes familial PMAH in association with other neoplasias is unclear.

Objective

The aim of the present study was to delineate the molecular cause in a large family with PMAH and other neoplasias.

Patients and methods

Whole-genome sequencing and comprehensive clinical and biochemical phenotyping was performed in members of a PMAH affected family. Nodules derived from adrenal surgery and pancreatic and meningeal tumor ti

SUBMITTER: Elbelt U 

PROVIDER: S-EPMC4283009 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature