Published online May 20, 2015. doi: 10.5493/wjem.v5.i2.124
Peer-review started: October 2, 2014
First decision: October 28, 2014
Revised: November 12, 2014
Accepted: February 4, 2015
Article in press: February 9, 2015
Published online: May 20, 2015
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited tumour syndrome expressing various endocrine and non-endocrine lesions and tumours. Since the identification of the causative gene, the oncosuppressor gene MEN1, in 1997, genetic testing has revealed an important approach for the early and differential diagnosis of the disease. The finding of a MEN1 mutation in a patient has important clinical implications for relatives since it allows very early disease diagnosis and identification of carriers, even before biochemical and/or clinical manifestation, permitting their inclusion in a specific program of surveillance and subsequent praecox therapy. Currently, genetic testing for MEN1 consists principally of the sequencing of coding regions and intron-exon junctions of the MEN1 gene. However, the recent acquisition of novel high throughput technologies will allow the design of innovative, accurate, complete and rapid genetic diagnosis. These new tools are able to increase the strength of the analysis and almost completely eliminate the possibility of false negative results. This review aims to give an overview on genetic testing of MEN1 syndrome, reporting the positive aspects of performing the analysis and the future perspectives for improving the performance of the test, as well as its application in clinical practice.
Core tip: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited tumour syndrome. Mutation analysis of the causative gene, the oncosuppressor MEN1 gene, is today the best approach for the early and differential diagnosis of the disease. The manuscript gives an overview on current genetic testing of MEN1 syndrome, reporting the positive aspects and clinical utility of performing the analysis. Moreover, the paper aims to report the future perspectives for improving the performance of the test and its application in clinical practice.