Article

Revisiting the Pathology of Bilateral Macronodular Adrenocortical Disease in Light of Recent Discoveries

2022-10-11

Abstract excerpt

Bilateral Macronodular Adrenocortical Disease (BMAD) is a rare cause of ACTH-pituitary-independent Cushing’s syndrome. The recent discovery of a relationship with pathogenic variants of ARMC5, a putative tumor suppressor gene, suggests that genetic determination of the disease is more common than previously thought. In view of apparently sporadic and familial cases from a single tertiary center, we carried out a d...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 326d9a64-ac7f-5cfe-8746-b89d6fa9835f
DOI: 10.21203/rs.3.rs-2135466/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Revisiting the Pathology of Bilateral Macronodular Adrenocortical Disease in Light of Recent DiscoveriesDOI 10.21203/rs.3.rs-2135466/v1Read

Impact of Morphology in the Genotype and Phenotype Correlation of Bilateral Macronodular Adrenocortical Disease (BMAD): A Series of Clinicopathologically Well-Characterized 35 Cases.Semantic proximity Read

Clinical, Pathophysiologic, Genetic, and Therapeutic Progress in Primary Bilateral Macronodular Adrenal HyperplasiaSemantic proximity Read

Genetic basis of bilateral macronodular hyperplasia.Semantic proximity Read

Case Report: a family presenting with β-adrenergic/vasopressin-responsive bilateral macronodular adrenal disease with an ARMC5 mutation treated with metyrapone monotherapy for more than 5 years.Semantic proximity Read

ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional ConsequencesSemantic proximity Read

Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations.Semantic proximity Read

Diagnosis and management of primary bilateral macronodular adrenal hyperplasiaSemantic proximity Read

Novel ARMC5 mutations in primary bilateral macronodular adrenal hyperplasia: a family reportSemantic proximity Read

Somatic Molecular Heterogeneity in Bilateral Macronodular Adrenocortical Disease (BMAD) Differs Among the Pathological SubgroupsSemantic proximity Read

Clinical and Genetic Analysis of Primary Bilateral Adrenal Diseases (Micro- and Macronodular Disease) Leading to Cushing SyndromeSemantic proximity Read

ARMC5 mutations are associated with high levels of proliferating cell nuclear antigen and the presence of the serotonin receptor 5HT4R in PMAH nodules.Semantic proximity Read

Do patients with incidentally discovered bilateral adrenal nodules represent an early form of ARMC5-mediated bilateral macronodular hyperplasia?Semantic proximity Read