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,

#2165 A Pilot Study of the Cyclin Dependent Kinases 4, 6 Inhibitor Ribociclib in Patients with Foregut Neuroendocrine Tumors

Introduction: Increased cyclin dependent kinases 4, 6 (cdk 4/6) activity is noted in the majority of well differentiated foregut neuroendocrine tumors (fNETs) due to mutations in MENIN and other aberrations. These tumors also have preserved Rb function making cdk 4/6 inhibitors attractive agents for therapy.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author: Dasari A

Authors: Dasari A, Halperin D, Coya T, Mahvash A, Zorrilla I,

Keywords: Foregut NETs, ribociclib, cdk 4/6,

#1683 International Multicenter Retrospective Study on the Efficacy and Toxicity of Radioembolization in Neuroendocrine Tumours with Yttrium-90 Resin Microspheres

Introduction: Radioembolization (RE) is applied worldwide in patients with liver-dominant metastatic neuroendocrine tumours (mNET). Current literature is of poor quality and based on small heterogeneous populations

Conference: 14th Annual ENETSConcerence (2017)

Presenting Author: Braat A

Authors: Braat A, Mahvash A, Stothers C, Deroose C, Frilling A,

Keywords: neuroendocrine tumors, radioembolization, sirt,

#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,