Abstract Library

#4468 Prevalence of familial pheochromocytoma and paraganglioma syndromes – A large multicentre study

Introduction: Pheochromocytoma and paraganglioma (PPGLs) are rare tumours. Depending on the studied population, approximately 30% of PPGLs are caused by a germline pathogenic variant (PV).

Conference:

Presenting Author: Halperin R

Authors: Halperin R, Reznick-Levi G, Khalaileh A, Svirsky-Frayden R, Reish O,

Keywords: paraganglioma, pheochromocytoma, genetic evaluation, catecholamine, sdhb, vhl,

#3397 Molecular deciphering of primary liver neuroendocrine neoplasms confirms its distinct existence with foregut-like profile

Introduction: Isolated hepatic localizations of neuroendocrine tumors (NETs) are generally considered as metastatic NETs of unknown primary but could correspond to primary hepatic NETs (PHNETs), a poorly explored entity.

Conference:

Presenting Author:

Authors: de Mestier L, Nicolle R, Poté N, Rebours V, Hentic O,

Keywords: liver, unknown primary, DNA sequencing, RNA sequencing, immunohistochemistry,

#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 ENETSConcerence (2020)

Presenting Author:

Authors: Vicentini C, Barbi S, Bersani S, Rusev B, Lawlor R,

Keywords: PanNET, gene expression profile, ATRX/DAXX mutations, patients’ stratification.,

#2272 Enhancing Diagnostic Precision Through Combined Genomic and Histopathological Analysis of Pancreatic Neuroendocrine Tumors

Introduction: Diagnostic differentiation of uncommon pancreatic malignancies can be challenging, but is essential for accurate clinical management; genomic analysis may provide a tool for making this critical distinction.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author: Lawrence B

Authors: Robb T, Yeong M, Kramer N, Blenkiron C, Parker K,

Keywords: precision medicine, diagnostics, histology, pathology, histo-pathology, genomics,

#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,