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Article

Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation.

Endocrine pathology - 1 Dec 2017

Romanet Pauline, Guerin Carole, Pedini Pascal, Essamet Wassim, Castinetti Frédéric, Sebag Fréderic, Roche Philippe, Cascon Alberto, Tischler Arthur S, Pacak Karel, Barlier Anne, Taïeb David

Abstract excerpt

In recent years, familial pheochromocytoma (PHEO) with germline mutations in the MAX (MYC associated factor X) gene has been reported in a few cases. Here, we investigated a 25-year-old patient with multiple PHEOs associated with a non-sense germline MAX mutation. Preoperative 18F-FDOPA PET/CT revealed bilateral adrenal involvement with multiple tumors. In addition, both adrenal glands were found to have diffuse...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27838885
DOI: 10.1007/s12022-016-9460-5
PMCID: PMC6287616

Genes

MAX
AMH
MYC
SDHB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation.PMID 27838885Read ↗

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Case Report of a Prolactinoma in a Patient With a Novel MAX Mutation and Bilateral PheochromocytomasSemantic proximity Read ↗

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Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effect.Semantic proximity Read ↗

Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?Semantic proximity Read ↗

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