Abstract Library

#4378 Hypoxic signalling in pancreatic NETs (pNETs)

Introduction: In a genomic profiling study conducted as part of the COMPOSE Phase III multicentre open-labelled clinical trial we assessed 9 pNET patients, 2 of which showed upregulation of CA9 and hypoxic signalling. Hypoxic tumour cells present CA9 for extracellular proton channelling, maintenance of intracellular pH and to acidify and thereby vascularise and immune-suppress the TME. In normoxia, EGLN1-3 hydroxylate proline residues of HIF1A for its subsequent ubiquitination by the VHL-complex resulting in degradation and repression of its target genes.

Conference:

Presenting Author: Walter T

Authors: Walter T, Smutna V, Srirajaskanthan R, Capdevila J, Qin Y,

Keywords: hypoxia, pNET, HIF1A, CA9, Case study, hypoxic, genomic profiling,

#3816 MET exon 14 skipping mutation – A new potential therapeutical target for lung carcinoids? Results from a next-generation sequencing (NGS) study

Introduction: Lung NETs, classified as typical carcinoid (TC) and atypical carcinoid (AC), share the well-differentiated morphology, but are characterized by an extreme heterogeneity in terms of biological aggressiveness and outcomes. Unfortunately, to date a unique molecular classification of these tumors is lacking, and therefore no personalized treatments are available.

Conference:

Presenting Author: La Salvia A

Authors: La Salvia A, Melucci E, Ciuffreda L, Resuli B, Visca P,

Keywords: lung neuroendocrine tumor, molecular profile, Oncomine Focus panel, MET exon 14 skipping mutation, therapeutic target,

#2861 Targeted Next Generation Sequencing Analysis Reveals the Genetic Characteristics of Gastric Neuroendocrine Neoplasmas

Introduction: there are abundant information about the clinical therapy and pathological features of gastric neuroendocrine neoplasms (gNENs) but little about its genetic characteristics.

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author: Chen H

Authors: Huang C, Yanfen S, Yuanliang L, Xiaowei W, Huangying T,

Keywords: gastric neuroendocrine neoplasms, SNV, CNV,

#2283 Ultra-Deep Targeted Resequencing Reveals Recurrent DAXX and CYFIP2 Mutations and Implicates Novel Pathways in Pancreatic Neuroendocrine Tumors

Introduction: Recent studies in pancreatic neuroendocrine tumors have identified mutations in DAXX/ATRX, MEN1, and genes involved in the phosphoinositide-3-kinase/Akt/mammalian target of rapamycin (PI3K-Akt-mTOR) pathway. However, these studies focused on abundant mutations.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author: Vandamme T

Authors: Vandamme T, Beyens M, Van Camp G, Boons G, Hofland L,

Keywords: pancreatic neuroendocrine tumors, PNET, genetics, tumor heterogeneity, hotspot mutations,

#1461 Whole Exome Sequencing of Three Families with Small Intestine Neuroendocrine Tumors

Introduction: Small intestine neuroendocrine tumors (siNETs) are the most prevalent small intestine neoplasms. However, familial siNETs are rarely described.

Conference: 13th Annual ENETSConcerence (2016)

Presenting Author:

Authors: Beyens M, Vandamme T, Goepfert A, Van Camp G, Hofland L,

Keywords: Familial siNET, whole exome, candidate gene,