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
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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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