Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review
An erratum to this article was published (J Clin Endocrinol Metab, 17 Jun 2024 ↗)
Authors' conclusion
The prevalence of MEN4 is low. PHPT and pituitary adenoma represent the main associated lesions, NETs are rare. Our results suggest a milder and later phenotype than in MEN1. Our observations will help to improve genetic counseling and management of MEN4 families.
Study context
- Population
- Adults with MEN1 suspicion who underwent germline genetic testing, French Oncogenetic Network on Neuroendocrine Tumors laboratories, 2015–2022MEN1-suspected patients
- Participants
- 5,600 adults
- Exposure
- MEN4 vs matched MEN1
- MEN1n = 66reference
- Outcome
- Prevalence of MEN4 in MEN1-suspected patients
Methodological detailsvariant class reassessment, matched comparison with MEN1 patients
- Variant class reassessment
- Matched comparison with MEN1 patients
Main finding
As reported in the abstract
Prevalence of class 4/5 CDKN1B variant (MEN4)
Patients with class 4/5 CDKN1B variant among MEN1-suspected patients
4
0.07%
Observational data: associations, not effects.
Further findings
Phenotype of MEN4 patients in the series
- Presented with multiple duodenal NET, primary hyperparathyroidism (PHPT) and adrenal nodule, isolated PHPT, PHPT, and pancreatic NET
MEN4 cases from literature
- Patients with CDKN1B class 4/5 variants listed from the literature
- 29
Phenotype MEN4 vs matched MEN1
- MEN4 patients presented lower NET incidence and older age at PHPT diagnosis than matched MEN1 patients
Original publication
Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review. J Clin Endocrinol Metab. Published 30 January 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →