Familial inactivating glucagon receptor mutation resulting in pancreatic neuroendocrine tumours with metastatic potential, somatic MEN1 mutations, and a heterozygous phenotype

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Introduction: Homozygous pathogenic glucagon receptor (GCGR) mutations cause a syndrome with pancreatic glucagon cell hyperplasia and neoplasia (GCHN) associated with Mahvash disease. This is an exceptionally rare autosomal recessive hereditary pancreatic neuroendocrine tumour (panNET) syndrome, with approximately ten cases documented in the literature.

Aim(s): The study was conducted to enhance understanding of the genotype-phenotype correlation in Mahvash disease and the development of panNET.

Materials and methods: Clinical features of GCHN with Mahvash disease were studied in a family with a germline variant of unknown significance (VUS) in the GCGR gene. The patients’ medical records were reviewed up until October 2024.

Conference:

Presenting Author: Kuiper J

Authors: Kuiper J, de Herder W, Brahim Y, van Velthuysen M, Brosens L,

Keywords: glucagon receptor mutation, mahvash disease, glucagon cell hyperplasia and neoplasia, pancreatic neuroendocrine tumour, MEN1,