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- Title
Gastrointestinal: Pancreatic NETs with GCGR heterozygous mutation: Mahvash disease.
- Authors
Deng, W; He, M; Wang, W; Xue, H
- Abstract
Preoperative contrast-enhanced CT (CECT) showed diffusely enlarged and inhomogeneously enhanced pancreas with a 2-cm high-density tumor in the pancreatic body. Mahvash disease is a rare autosomal recessive hereditary pancreatic neuroendocrine neoplasms caused by defective glucagon receptor gene (GCGR) in the liver and associated reactive pancreatic -cell hyperplasia. (d) Gastrin immunochemistry of pancreatic lesions was positive. gl Whole-genome sequencing of peripheral blood demonstrated heterozygous mutation of c.1345C>T, which lead to premature termination of translation, and c.922C>T, which lead to arginine replaced by tryptophan.
- Subjects
PANCREATIC tumors; GENETIC mutation; GLUCAGON receptors; SOMATOSTATIN receptors; OCTREOTIDE acetate; NEUROENDOCRINE tumors
- Publication
Journal of Gastroenterology & Hepatology, 2023, Vol 38, Issue 8, p1243
- ISSN
0815-9319
- Publication type
Article
- DOI
10.1111/jgh.16104