ArticleBMC medicine2016
MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients.
Article in BMC medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 3 of them syntheses that pooled it.
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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.
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Who cites it
67 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- American Association of Clinical Endocrinology Consensus Statement on Management of Multiple Endocrine Neoplasia Type 1.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2025Guideline
- Precision radiotherapy using MR-linac for pancreatic neuroendocrine tumors in MEN1 patients (PRIME): a protocol for a phase I-II trial, and systematic review on available evidence for radiotherapy of pNETs.Frontiers in endocrinology · 2023Pooled it
- Prognostic factors for the outcome of nonfunctioning pancreatic neuroendocrine tumors in MEN1: a systematic review of literature.Endocrine-related cancer · 2020Pooled it
- Pathogenic mobile element insertion in theJournal of medical genetics · 2026Article
- Health-related quality of life in children with multiple endocrine neoplasia (MEN) and their siblings.The Journal of clinical endocrinology and metabolism · 2026Article
- FROM DISCOVERY SCIENCE TO THE CLINIC - HERITABLE ENDOCRINE CANCERS AND RELATED DISORDERS: Functional imaging in hereditary endocrine neoplasms: evolving modalities and clinical implications.Endocrine-related cancer · 2026Review
- The clinical challenge of MEN1 phenocopies: insights from a multicentric national retrospective study.Journal of endocrinological investigation · 2026Article
- Circulating Gene Expression Assay as a Diagnostic and Prognostic Biomarker for Pancreatic Neuroendocrine Tumors in MEN1.The Journal of clinical endocrinology and metabolism · 2026Article
- Multiple endocrine neoplasia type 1 with concurrent Cushing's disease, prolactinoma, and multifocal pancreatic neuroendocrine tumors including insulinoma: a case report.Upsala journal of medical sciences · 2026Article
- Current Medical Controversies in Zollinger-Ellison Syndrome.Biomedicines · 2025Review
- Article
- Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort.The Journal of clinical endocrinology and metabolism · 2025Article
- Familial MEN1 Syndrome with Atypical Renal Features and a Coexisting CLDN16 Variant: A Case Series.Journal of clinical medicine · 2025Article
- Multiple endocrine neoplasia type 1 with neuroglycopenic symptoms with a novel heterozygous MEN1 gene mutation.World journal of surgical oncology · 2025Article
- Article
- Genotype-phenotype correlation in multiple endocrine neoplasia type 1.JCI insight · 2025Article
- A Novel and Rare Pathogenic Gene Variant in 2 Patients With Multiple Endocrine Neoplasia Type 1 (MEN-1) Syndrome.JCEM case reports · 2025Article
- Progress report on multiple endocrine neoplasia type 1.Familial cancer · 2025Review
- The natural course of cystic pancreatic neuroendocrine tumours in MEN1.Endocrine oncology (Bristol, England) · 2025Article
- Case Report: Novel likely pathogenicFrontiers in endocrinology · 2025Article
7 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMultiple Endocrine Neoplasia type 1 (MEN1) is diagnosed when two out of the three primary MEN1-associated endocrine tumors occur in a patient. Up to 10-30 % of those patients have no mutation in the MEN1 gene. It is unclear if the phenotype and course of the disease of mutation-negative patients is comparable with mutation-positive patients and if these patients have true MEN1. The present study aims to describe and compare the clinical course of MEN1 mutation-negative patients with two out of the three main MEN1 manifestations and mutation-positive patients during long-term follow-up.
methodsThis is a cohort study performed using the Dutch MEN1 database, including > 90 % of the Dutch MEN1 population.
resultsA total of 293 (90.7 %) mutation-positive and 30 (9.3 %) mutation-negative MEN1 patients were included. Median age of developing the first main MEN1 manifestation was higher in mutation-negative patients (46 vs. 33 years) (P = 0.007). Mutation-negative patients did not develop a third main MEN1 manifestation in the course of follow-up compared to 48.3 % of mutation-positive patients (P < 0.001). Median survival in mutation-positive patients was estimated at 73.0 years (95 % CI, 69.5-76.5) compared to 87.0 years (95 % CI not available) in mutation-negative patients (P = 0.001).
conclusionsMutation-positive and mutation-negative MEN1 patients have a different phenotype and clinical course. Mutation-negative patients develop MEN1 manifestations at higher age and have a life expectancy comparable with the general population. The apparent differences in clinical course suggest that MEN1 mutation-negative patients do not have true MEN1, but another MEN1-like syndrome or sporadic co-incidence of two neuro-endocrine tumors.
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