Definition
Multiple endocrine neoplasia type 1 (MEN1, OMIM #131100) is a genetic disease caused by mutations in the MEN1 gene. It mainly leads to a predisposition to parathyroid tumors with primary hyperparathyroidism (PHPT), pancreatic islet cell tumors, and adenohypophysis (anterior pituitary neuroendocrine tumors, PitNET). All in all, the MEN1 tumor spectrum includes more than 20 endocrine and non-endocrine tumors, which may occur in different combinations.
Key Data
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Synonym | Wermer syndrome |
Gene | MEN1 |
Gene product | Menin protein |
Function | Presumably functions to regulate the cell cycle, transcription, and to maintain genomic stability |
Heredity | Autosomal dominant, around 10% de novo mutations |
Prevalence | 1:20.000 – 1:40.000 |
Genotype-phenotype correlation | Unknown |
Penetrance | With regard to all clinical manifestations: over 50% at age 20 and over 95% at age 40 |
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Diagnosis
Genetic Diagnostics
Genetic testing is indicated in the following cases:
The diagnosis of “MEN1” is confirmed by the detection of a heterozygous germline mutation in the MEN1 gene through sequence analysis or deletion/duplication analysis. It may be helpful to use panel examinations consisting of multiple genes.