Abstract Library

#4353 Familial inactivating glucagon receptor mutation resulting in pancreatic neuroendocrine tumours with metastatic potential, somatic MEN1 mutations, and a heterozygous phenotype

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.

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,

#1256 Characterization and Rescue of a Pathogenic D63N Mutant Human Glucagon Receptor That Causes a Pancreatic Neuroendocrine Tumor Syndrome (Mahvash disease)

Introduction: We have previously demonstrated that inactivating glucagon receptor (GCGR) mutations cause a novel hereditary human disease of hyperglucagonemia, pancreatic α cell hyperplasia, and pancreatic neuroendocrine tumor (Mahvash disease). We recently identified a novel missense GCGR mutation, D63N, in a family with Mahvash disease.

Conference: 13th Annual ENETSConcerence (2016)

Presenting Author: Yu R

Authors: Yu R, Zhou C, Chen C,

Keywords: Mutant glucagon receptor, chaperone, Mahvash disease,

#1253 A Novel Hereditary Pancreatic Neuroendocrine Tumor Syndrome Associated with Biallelic Inactivation of the Glucagon Receptor

Introduction: Hereditary pancreatic neuroendocrine tumors (PanNETs) are associated with 4 known autosomal dominant syndromes including MEN1, vHL disease, NF1, and TS. Glucagon receptor (GCGR) inactivation in human (Mahvash disease) has been associated with asymptomatic hyperglucagonemia, α-cell hyperplasia, and PanNET, and may represent a new hereditary syndrome.

Conference: 13th Annual ENETSConcerence (2016)

Presenting Author: Tang L

Authors: Tang L, Yu R,

Keywords: Hereditary PanNET,

#691 Pancreatic Focal Alpha Cell Hyperplasia with Hyperglucagonaemia without the Glucagonoma Syndrome

Introduction: Pancreatic alpha cell hyperplasia and hyperglucagonaemia without the glucagonoma syndrome is a rare clinical syndrome not widely recognised. Here we describe a novel mutation in the glucagon receptor gene (GCGR) in a patient with the disease.

Conference: 10th Annual ENETSConcerence (2013)

Presenting Author:

Authors: Miller H, Baird D, Kidd M, Cohen P, Vlavianos P,

Keywords: glucagon receptor, mutation,

#564 Genetic Alterations in Glucagon Cell Adenomatosis

Introduction: Glucagon cell adenomatosis (GCA) was recently recognized by us as a multifocal neoplastic disease of the endocrine pancreas unrelated to MEN-1. Multiple micro- and a few macrotumors are found on the background of a hyperplasia of glucagon cells. The disease may cause unspecific abdominal symptoms and only rarely a glucagonoma syndrome. Recently a mutation in the glucagon receptor (GCGR) gene was described in one GCA patient.

Conference: 9th Annual ENETSConcerence (2012)

Presenting Author:

Authors: Henopp T, Anlauf M, Biskup S, Klöppel G, Sipos B,

Keywords: glucagon,