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Article

The clinical challenge of MEN1 phenocopies: insights from a multicentric national retrospective study.

Journal of endocrinological investigation - 1 Mar 2026

Ruggeri Rosaria M, Benevento Elio, Hasballa Iderina, Grossrubatscher Erika Maria, Modica Roberta, Albertelli Manuela, Golisano Bianca, Guarnieri Vito, Pugliese Flavia, Guarnotta Valentina, Jaafar Simona, Lania Andrea, Prinzi Antonio, Zanata Isabella, Zatelli Maria Chiara, Colao Annamaria, Faggiano Antongiulio

Abstract excerpt

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder caused by MEN1 gene mutations, typically involving primary hyperparathyroidism (PHPT), pancreatic neuroendocrine tumors (PanNETs), and/or pituitary neuroendocrine tumors (PitNETs). However, 10-30% of patients with MEN1-like features lack identifiable MEN1 mutations and are classified as phenocopies. This retrospective multicenter study,...

Topics

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Hyperparathyroidism, Primary
Italy
Multiple Endocrine Neoplasia Type 1
Neuroendocrine Tumors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pancreatic Neoplasms

Pituitary Neoplasms

Proto-Oncogene Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 41222883
DOI: 10.1007/s40618-025-02743-w
PMCID: PMC13017983

Genes

MEN1
CDKN1B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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