Singeisen, Hélène; Renzulli, Mariko Melanie; Pavlicek, Vojtech; Probst, Pascal; Hauswirth, Fabian; Muller, Markus K; Adamczyk, Magdalene; Weber, Achim; Kaderli, Reto Martin; Renzulli, Pietro (2023). Multiple endocrine neoplasia type 4: a new member of the MEN family. Endocrine Connections, 12(2) BioScientifica 10.1530/EC-22-0411
|
Text
2049-3614-ec-22-0411.pdf - Accepted Version Available under License Creative Commons: Attribution-Noncommercial-No Derivative Works (CC-BY-NC-ND). Download (775kB) | Preview |
OBJECTIVE
Multiple endocrine neoplasia type 4 (MEN4) is caused by a CDKN1B germline mutation first described in 2006. Its estimated prevalence is less than 1/million. The aim of this study was to define the disease characteristics.
METHODS
Systematic review according to the PRISMA 2020 criteria. MEDLINE® and Web of ScienceTM search from January 2006 to August 2022.
RESULTS
Forty-eight symptomatic patients fulfilled the pre-defined eligibility criteria. Twenty-eight different CDKN1B variants, mostly missense (21/48, 44%) and frameshift mutations (17/48, 35%), were reported. The majority of patients were women (36/48, 75%). Men became symptomatic at a median age of 32.5 years (range 10-68, mean 33.7 ± 23), whereas the same event was recorded for women at a median age of 49.5 years (range 5-76, mean 44.8 ± 19.9) (p = 0.25). The most frequently affected endocrine organ was the parathyroid gland (36/48, 75%; uniglandular disease 31/36, 86%), followed by the pituitary gland (21/48, 44%; hormone-secreting 16/21, 76%), the endocrine pancreas (7/48, 15%) and the thyroid gland (4/48, 8%). Tumours of the adrenal glands and thymus were found in three and two patients, respectively. The presenting first endocrine pathology concerned the parathyroid (27/48, 56%) and the pituitary gland (11/48, 23%). There were one (27/48, 56%), two (13/48, 27%), three (3/48, 6%), or four (5/48, 10%) syn- or metachronously affected endocrine organs in a single patient, respectively.
CONCLUSION
MEN4 is an extremely rare disease, which most frequently affects women around 50 years of age. Primary hyperparathyroidism as a uniglandular disease is the leading pathology.
Item Type: |
Journal Article (Review Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Gastro-intestinal, Liver and Lung Disorders (DMLL) > Clinic of Visceral Surgery and Medicine > Visceral Surgery 04 Faculty of Medicine > Department of Gastro-intestinal, Liver and Lung Disorders (DMLL) > Clinic of Visceral Surgery and Medicine |
UniBE Contributor: |
Kaderli, Reto Martin |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
2049-3614 |
Publisher: |
BioScientifica |
Language: |
English |
Submitter: |
Pubmed Import |
Date Deposited: |
19 Dec 2022 13:53 |
Last Modified: |
25 Jan 2023 00:15 |
Publisher DOI: |
10.1530/EC-22-0411 |
PubMed ID: |
36520683 |
BORIS DOI: |
10.48350/175917 |
URI: |
https://boris.unibe.ch/id/eprint/175917 |
Actions (login required)
 |
Edit item |