Evidence map›Paper›PMID 32901291›Full record

ArticleThe Journal of clinical endocrinology and metabolism2020

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

Svetozar S Damjanovic, Jadranka A Antic, Valentina I Elezovic-Kovacevic, Dusko M Dundjerovic, Ivana T Milicevic, Bojana B Beleslin-Cokic, Bojana B Ilic, Gordana S Rodic, Annabel Berthon, Andrea Gutierrez Maria and 2 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of clinical endocrinology and metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 27% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 9 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 2 institutions in 2 countries.

Svetozar S DamjanovicMedical School, University of Belgrade, Belgrade, Serbia.
Jadranka A AnticClinic for Endocrinology, Diabetes and Metabolic Diseases, Medical School, University of Belgrade, Department for Neuroendocrine Tumors and Hereditary Cancer Syndromes, Belgrade, Serbia.
Valentina I Elezovic-KovacevicClinic for Endocrinology, Diabetes and Metabolic Diseases, Medical School, University of Belgrade, Department for Neuroendocrine Tumors and Hereditary Cancer Syndromes, Belgrade, Serbia.
Dusko M DundjerovicInstitute for Pathology, Medical School, University of Belgrade, Belgrade, Serbia.
Ivana T MilicevicClinic for Endocrinology, Diabetes and Metabolic Diseases, Medical School, University of Belgrade, Department for Neuroendocrine Tumors and Hereditary Cancer Syndromes, Belgrade, Serbia.
Bojana B Beleslin-CokicClinic for Endocrinology, Diabetes and Metabolic Diseases, Medical School, University of Belgrade, Department for Neuroendocrine Tumors and Hereditary Cancer Syndromes, Belgrade, Serbia.
Bojana B IlicClinic for Endocrinology, Diabetes and Metabolic Diseases, Medical School, University of Belgrade, Department for Neuroendocrine Tumors and Hereditary Cancer Syndromes, Belgrade, Serbia.
Gordana S RodicClinic for Endocrinology, Diabetes and Metabolic Diseases, Medical School, University of Belgrade, Department for Neuroendocrine Tumors and Hereditary Cancer Syndromes, Belgrade, Serbia.
Annabel BerthonSection on Genetics & Endocrinology, Intramural Research Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development, Bethesda, Maryland.
Andrea Gutierrez MariaSection on Genetics & Endocrinology, Intramural Research Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development, Bethesda, Maryland.
Fabio R FauczSection on Genetics & Endocrinology, Intramural Research Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development, Bethesda, Maryland.
Constantine A StratakisSection on Genetics & Endocrinology, Intramural Research Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development, Bethesda, Maryland.
University of Belgrade · RSEunice Kennedy Shriver National Institute of Child Health and Human Development · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

contextAdrenal 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.

objectiveThe objective of this work is to investigate a large cohort spNETs or MEN1 patients for changes in the ARMC5 gene. PATIENTS AND

methodsA 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.

resultsIn 76 of 111 (68.4%) patients, we identified 16 different ARMC5 germline variants, 2 predicted as damaging. There were no differences in the prevalence of ARMC5 variants depending on the presence of MEN1-related adrenal lesions. Loss of heterozygosity (LOH) at chromosome 16p and ARMC5 germline variants were present together in 23 or 34 (67.6%) tumors; in 7 of 23 (30.4%) their presence led to biallelic inactivation of the ARMC5 gene. The latter was more prevalent in MEN1-related tumors than in spNETs (88.9% vs 38.9%; P = .005). LOH at the chromosome 16p (ARMC5) and 11q (MEN1) loci coexisted in 16/18 MEN1-related tumors, which also expressed lower ARMC5 (P = .02) and MEN1 (P = .01) proteins compared to peritumorous tissues.

conclusionGermline ARMC5 variants are common among spNET and MEN1 patients. ARMC5 haploinsufficiency or biallelic inactivation in spNETs and MEN1-related tumors suggests that ARMC5 may have a role in modifying the phenotype of patients with spNETs and/or MEN1 beyond its known role in macronodular adrenocortical hyperplasia.

Indexed as

AdenomaAdolescentAdrenal Gland NeoplasmsAdultAgedArmadillo Domain ProteinsChildCohort StudiesDNA Mutational AnalysisFemaleGerm-Line MutationHumansLoss of HeterozygosityMaleMiddle AgedMultiple Endocrine Neoplasia Type 1Armadillo Domain ProteinsARMC5 protein, humanARMC5 genegerminal and somatic alterationsmultiple endocrine neoplasia type 1 (MEN1)neuroendocrine tumors

Identifiers

PMID32901291
PMCPMC7547841
OpenAlexW3084043763

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.