Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the occurrence of hyperparathyroidism, pituitary adenomas and duodeno-pancreatic neuroendocrine tumours (NETs). Germline mutations of the MEN1 gene are identified in up to 87% of MEN1 families and 82% of isolated MEN1 cases.
Aim(s): To report a novel variant of the MEN1 gene.
Materials and methods: We describe a typical sporadic MEN1 patient. Mutational analysis of the MEN1 gene (exons 2-10) has been performed by Sanger sequencing.
Conference: 12th Annual ENETS Conference 2015 (2015)
Category: Clinical cases/reports
Presenting Author: MD Donato Iacovazzo
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