Article
Familial Mahvash disease with metastatic pancreatic NET and MEN1 mutations.
Endocrine-related cancer - 1 Jun 2025
Kuiper Jelka, de Herder Wouter W, Ben Brahim Yassine, van Velthuysen Marie-Louise F, Brosens Lodewijk A A, Feelders Richard A, Langendonk Janneke G, van Marion Ronald, Korpershoek Esther, Klöppel Günter, Wagner Anja, Hofland Johannes
Abstract excerpt
Homozygous pathogenic glucagon receptor gene (GCGR) mutations cause a syndrome with pancreatic glucagon cell hyperplasia and neoplasia (GCHN) and hyperglucagonaemia without a glucagonoma syndrome named Mahvash disease. The disease follows an autosomal recessive course and is an exceptionally rare hereditary pancreatic neuroendocrine tumour (panNET) syndrome, with only seven cases documented in the literature. The...
Read the complete abstract on PubMedTopics
- Humans
- Male
- Pancreatic Neoplasms
- Female
- Middle Aged
- Neuroendocrine Tumors