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

ABSTRACT: Adrenal lesions are frequent among patients with sporadic neuroendocrine tumors (spNETs) or multiple endocrine neoplasia type 1 (MEN1). Armadillo repeat-containing 5 (ARMC5)-inactivating variants cause adrenal tumors and possibly other neoplasms. The objective of this work is to investigate a large cohort spNETs or MEN1 patients for changes in the ARMC5 gene. A total of 111 patients, 94 with spNET and 17 with MEN1, were screened for ARMC5 germline alterations. Thirty-six tumors (18 spNETs and 18 MEN1 related) were collected from 20 patients. Blood and tumor DNA samples were genotyped using Sanger sequencing and microsatellite markers for chromosomes. ARMC5 and MEN1 expression were assessed by immunohistochemistry. In 76 of 111 (68.4%) patients, we identified 16 different ARMC5 germline var

SUBMITTER: Damjanovic SS 

PROVIDER: S-EPMC7547841 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature