What is it about?

Clinical presentation variability in MEN1 syndrome exists and evidence for an established genotype-phenotype is lacking. However, a higher aggressiveness of MEN1-associated gastro-entero-pancreatic (GEP) (neuro)endocrine tumours (NETs) tumours has been reported when MEN1 gene truncating mutations are detected. We describe a novel germline truncating mutation of MEN1 gene at exon 10 in a subject with an aggressive clinical behavior of GEP-NETs. Successively, other two mutant-affected familial members have been identified.

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Why is it important?

Our findings do confirm the need for MEN1 individuals to be evaluated by a skilled multidisciplinary team

Perspectives

Patients with this tumour tumour syndrome must be assessed in a specifically and highly organised clinical management path that includes figures, in addition to the endocrinologist experienced in these syndromes, such as medical geneticists, surgeons with high experience in the field (in particular parathyroid surgery and the abdominal - pancreatic neuroendocrine tumors), nuclear medical, psychologists, appropriate nursing staff and, not least, the family doctor who is to be specially educated. Quite recently, it has been reported that small molecules such microRNA act as important regulators of gene activity and a single microRNA can have significant effects, influencing hundreds of gene transcripts and determining a general change in cell physiology. In fact, microRNAs have a major role in cancer and, in early future, we hope that molecular data on possible involvement of specific miRNAs and epigenetic information also in MEN1-associated tumors in order to develop new therapeutical strategies other than the current utilized.

Dr. ALBERTO FALCHETTI
Endosmet, Villa Donatello, Private Hospital, FLorence, Italy

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This page is a summary of: A novel germline mutation at exon 10 of MEN1 gene: a clinical survey and positive genotype-phenotype analysis of a MEN1 Italian family, including monozygotic twins, HORMONES, August 2018, Springer Science + Business Media,
DOI: 10.1007/s42000-018-0044-2.
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