학술논문

Duodenal neuroendocrine tumour in a young patient with von Recklinghausen disease.
Document Type
Article
Source
Journal of Surgical Case Reports. Mar2020, Vol. 2020 Issue 3, pN.PAG-N.PAG. 1p.
Subject
*VON Hippel-Lindau disease
*NEUROFIBROMATOSIS 1
*GENETIC disorders
*CANCER
*SUPPRESSOR mutation
*DISEASES
*HOSPITAL emergency services
Language
ISSN
2042-8812
Abstract
Von Recklinghausen disease (neurofibromatosis type 1—NFT1) is a genetic disorder with autosomal dominant inheritance pattern, caused by mutation of a tumour suppressor gene. Its main features include multiple cutaneous café-au-lait spots and neurofibromas. It is associated with an increased risk of developing neuroendocrine tumours, for instance, in the duodenum. The authors present a case of a 23-year-old male patient admitted to the emergency department due to persistent vomiting. Imaging and biopsy studies revealed an obstructive and large duodenal neuroendocrine tumour; hence the patient underwent a pancreaticoduodenectomy. [ABSTRACT FROM AUTHOR]