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

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.
Aim(s): We identified an index case with suspected Mahvash disease (MD) and collected information from 44 family members in 4 generations and genotyped the GCGR in 10 family members.
Materials and methods: The mutant GCGR transcriptions in were evaluated by mRNA/cDNA sequencing.
Conference: 13th Annual ENETS conference 2016 (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Dr. Laura Tang
Authors: Tang L, Yu R

To read results and conclusion, please login ...

Further abstracts you may be interested in

#3005 Comparison between Tang and WHO 5th Edition Grade Classification for Goblet Cell Adenocarcinomas
Introduction: Appendiceal GCAs (previously Goblet Cell Carcinoids) are composed of cells with secretory phenotypes. Several grading systems to predict behaviour are available (e.g.Tang). The latest WHO 5th edition adopted a grading system similar to colon adenocarcinomas.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Pathology - grading, staging
Presenting Author: MD, PhD Jorge Barriuso
#3007 An mRNA-based Classifier Identifies PanNETs with Different Clinicopathological Characteristics
Introduction: Pancreatic neuroendocrine tumors (PanNETs) are a heterogeneous group of neoplasms that varies from indolent to highly aggressive diseases. Previous studies have suggested alterations of ATRX/DAXX as biomarkers of dismal prognosis, yet inconclusive data (especially in the metastatic setting) prevent those biomarkers to be used as routine clinical tests.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Caterina Vicentini
#2693 The Distinctive Character of Micro-Vasculature and Immune Cell Infiltration in Cystic Pancreatic Neuroendocrine Tumors
Introduction: Hypervascularity is main character of pancreatic neuroendocrine tumors (PanNETs), cystic PanNET (CPanNET) are unique type of PanNETs for which the microenvironment remains unknown.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Biomarkers
Presenting Author: Heli Gao
Authors: Gao H, ...
#2948 Efficacy Prediction Using Computed Tomography for Patients with Pancreatic Neuroendocrine Tumors Receiving Sunitinib
Introduction: How to predict the efficacy of sunitinib before treatment initiation was less known.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Imaging and Interventions (radiology, endoscopy)
Presenting Author: Professor Jie Chen
Authors: Zhang Y, Chen L, Wang W, Jin K, ...
#2739 Epigenetic Landscape of Pancreatic Neuro-Endocrine Tumors Reveals Distinct Cells of Origin and Means of Tumor Progression
Introduction: Pancreatic Neuroendocrine Tumors (PanNETs) arise from cells of the Islets of Langerhans. The majority of PanNETs are non-functional and their cell of origin cannot be defined analysing specific hormone production. Cell of origin assessment has proven importance to identify risk factors, prevent tumour development, and tailor treatment in many malignancies. Recent data on super-enhancer signatures has suggested a potential origin of PanNET from α- or β-cells. We and others have shown that distinct epigenetic profiles assessed by DNA methylation (DNAme) characterize genomic and prognostic groups of PanNET.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Annunziata Di Domenico