ArticleThe Journal of clinical endocrinology and metabolism2015
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.
Article in The Journal of clinical endocrinology and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 107 citations in OpenAlex.
- Treatment of Cushing's Syndrome: An Endocrine Society Clinical Practice Guideline.The Journal of clinical endocrinology and metabolism · 2015Guideline
- Non-incidentally detected adrenal mass: a paradigm shift beyond incidentaloma?Journal of endocrinological investigation · 2026Article
- Article
- Transcription quality control at the promoter-proximal checkpoint.Genes & development · 2025Review
- PDE11A Is a Phenotype Modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: Results of a 334-Patient Series.The Journal of clinical endocrinology and metabolism · 2025Article
- Advancements in the research of the structure, function, and disease-related roles of ARMC5.Frontiers of medicine · 2025Review
- The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update.Orphanet journal of rare diseases · 2025Review
- Redundant pathways for removal of defective RNA polymerase II complexes at a promoter-proximal pause checkpoint.Molecular cell · 2024Article
- Somatic Molecular Heterogeneity in Bilateral Macronodular Adrenocortical Disease (BMAD) Differs Among the Pathological Subgroups.Endocrine pathology · 2024Article
- Overview of endocrine tumor syndromes manifesting as adrenal tumors.Ewha medical journal · 2024Review
- High prevalence of adrenal cortical adenomas in patients with cerebral meningiomas.Journal of endocrinological investigation · 2023Article
- New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH).Molecular genetics & genomic medicine · 2023Article
- Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease.Nature reviews. Endocrinology · 2022Review
- A novel pathogenic variant of ARMC5 in a patient with primary bilateral macronodular adrenal hyperplasia: a case report.BMC endocrine disorders · 2022Article
- ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia.Nucleic acids research · 2022Article
- An Overview of the Heterogeneous Causes of Cushing Syndrome Resulting From Primary Macronodular Adrenal Hyperplasia (PMAH).Journal of the Endocrine Society · 2022Review
- Genetic Alterations in Benign Adrenal Tumors.Biomedicines · 2022Review
- Cushing´s syndrome due to bilateral adrenal cortical disease: Bilateral macronodular adrenal cortical disease and bilateral micronodular adrenal cortical disease.Frontiers in endocrinology · 2022Review
- Case Report: A Novel ARMC5 Germline Mutation in a Patient with Primary Bilateral Macronodular Adrenal Hyperplasia and Hypogammaglobulinemia.Frontiers in genetics · 2022Article
- Frequently asked questions and answers (if any) in patients with adrenal incidentaloma.Journal of endocrinological investigation · 2021Review
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 4 countries.
Funding
Abstract
contextPrimary 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.
objectiveThe aim of the present study was to delineate the molecular cause in a large family with PMAH and other neoplasias. PATIENTS AND
methodsWhole-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 tissue were analyzed for accompanying somatic mutations in the identified target genes.
resultsPMAH presenting either as overt or subclinical Cushing's syndrome was accompanied by a heterozygous germline mutation in ARMC5 (p.A110fs*9) located on chromosome 16. Analysis of tumor tissue showed different somatic ARMC5 mutations in adrenal nodules supporting a second hit hypothesis with inactivation of a tumor suppressor gene. A damaging somatic ARMC5 mutation was also found in a concomitant meningioma (p.R502fs) but not in a pancreatic tumor, suggesting biallelic inactivation of ARMC5 as causal also for the intracranial meningioma.
conclusionsOur analysis further confirms inherited inactivating ARMC5 mutations as a cause of familial PMAH and suggests an additional role for the development of concomitant intracranial meningiomas.
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