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ARMC5 Alterations in Patients With Sporadic Neuroendocrine Tumors and Multiple Endocrine Neoplasia Type 1 (MEN1)

Svetozar S Damjanovic1, Jadranka A Antic2, Valentina I Elezovic-Kovacevic2

  • 1Medical School, University of Belgrade, Belgrade, Serbia.

The Journal of Clinical Endocrinology and Metabolism
|September 9, 2020
PubMed
Abstract

Insights

Germline variants in the ARMC5 gene are common in patients with sporadic neuroendocrine tumors (spNETs) and multiple endocrine neoplasia type 1 (MEN1). ARMC5 inactivation contributes to tumor development in these conditions.

Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Adrenal lesions are frequently observed in patients with sporadic neuroendocrine tumors (spNETs) and multiple endocrine neoplasia type 1 (MEN1).
  • Inactivating variants of the Armadillo repeat-containing 5 (ARMC5) gene are associated with adrenal tumors and potentially other neoplasms.

Purpose of the Study:

  • To investigate the frequency and impact of ARMC5 gene alterations in a large cohort of patients with spNETs or MEN1.
  • To determine the role of ARMC5 germline variants and loss of heterozygosity in the development of adrenal tumors in these patient groups.

Main Methods:

  • Screened 111 patients (94 spNET, 17 MEN1) for ARMC5 germline alterations.
  • Genotyped DNA from 36 tumors and blood samples using Sanger sequencing and microsatellite markers.
  • Assessed ARMC5 and MEN1 expression via immunohistochemistry.

Main Results:

  • Identified ARMC5 germline variants in 68.4% of patients, with 2 predicted as damaging.
  • Found that ARMC5 biallelic inactivation was more prevalent in MEN1-related tumors (88.9%) than in spNETs (38.9%).
  • Observed coexisting LOH at ARMC5 and MEN1 loci in MEN1 tumors, associated with lower ARMC5 and MEN1 protein expression.

Conclusions:

  • Germline ARMC5 variants are common in spNET and MEN1 patients.
  • ARMC5 haploinsufficiency or biallelic inactivation plays a role in spNETs and MEN1-related tumors.
  • ARMC5 may influence the phenotype of spNETs and MEN1 beyond its known role in adrenal hyperplasia.
Keywords:
ARMC5 genegerminal and somatic alterationsmultiple endocrine neoplasia type 1 (MEN1)neuroendocrine tumors

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