Abstract Library

#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,

#1108 Regression of Paraneoplastic Optic Neuropathy Associated with Glucagonoma After Surgical Resection

Introduction: Glucagonomas-associated ocular manifestations have been exceptionally reported.

Conference: 12th Annual ENETSConcerence (2015)

Presenting Author:

Authors: Defour L, De Mestier L, Diebold M, Arndt C, Kianmanesh R,

Keywords: Paraneoplastic syndrome, glucagonoma, optic neuropathy.,

#675 Olfactory Receptor 51E1 is a Potential Novel Target for Diagnosis and Treatment of Somatostatin Receptor Negative Lung Carcinoid Patients

Introduction: Somatostatin receptor (SSTR) expression may be used for diagnosis and therapy of lung carcinoids. However, novel targets are requested.

Conference: 10th Annual ENETSConcerence (2013)

Presenting Author: Cui T

Authors: Cui T, Giandomenico V, Öberg K, Pelosi G, Tsolakis A,

Keywords: olfactory receptor 51E1, somatostatin receptor, lung carcinoids, novel target, OctreoScan,

#674 Serum miRNA Expression in Small Intestine Neuroendocrine Tumors and Biological Function of miR-196a in Neuroendocrine Tumor Cells

Introduction: MicroRNAs (miRNAs), post-transcriptional regulators, function either as tumor suppressors or oncogenes. We recently identified five upregulated and four downregulated miRNAs in small intestinal neuroendocrine tumor (SI-NET) tissue. We then started new analysis on body fluids to detect tumor signatures using patients’ serum.

Conference: 10th Annual ENETSConcerence (2013)

Presenting Author:

Authors: Naboulsi R, Li S, Cui T, Öberg K, Giandomenico V,

Keywords: neuroendocrine tumors, serum miRNA expression, miRNA target functions,

#672 Affinity Proteomic Plasma Analysis of Human Well-Differentiated Small Intestinal Neuroendocrine Tumors

Introduction: Small intestine neuroendocrine tumor (SI-NET) patients get diagnosis at the stage of metastasis and there is a lack of curative treatments.

Conference: 10th Annual ENETSConcerence (2013)

Presenting Author: Giandomenico V

Authors: Darmanis S, Cui T, Li S, Öberg K, Nilsson P,

Keywords: small intestine neuroendocrine tumors, blood, antibody-suspension bead-array, biomarker,