Abstract Library

#2180 BRAF-V600E Driven Mutations in Grade 3 Neuroendocrine Carcinomas of Colon Origin: Results from Genomic/Epigenomic Profilings and Patient-Derived Mouse Model

Introduction: NECs of colon origin are orphan and highly aggressive neoplasms with limited molecular knowledge.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author: Capdevila J

Authors: Capdevila J, Mancuso F, Landolfi S, Martinez-Cardus A, Barriuso J,

Keywords: Neuroendocrine carcinoma, Genomics, Epigenomics, BRAFV600E, Patient-derived xenograft,

#2123 Large Cell Neuroendocrine Carcinoma (LCNEC) Associated with a Dysplastic Sessile Serrated Lesion (SSL) and Deficient Mismatch Repair (MMR) Protein: A Case Report.

Introduction: Colorectal poorly differentiated neuroendocrine carcinomas (NECs) are rare, but extremely aggressive. The mechanisms of their carcinogenesis and aggressiveness are still largely unknown. Recently Nobuyoshi Takizawa showed that the molecular features of colorectal NECs are similar to those of adenocarcinoma and not to those of NETs and they were more evident in small cell NECs than in large cell NECs. This is supported by combined cases with conventional adenoma/adenocarcinoma and NECs. Stelow et al showed that DNA mismatch repair proteins were intact in 14/15 colorectal small cell NECs. Two cases of LCNECs arising from SSL have been reported so far in the literature.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author: Luong T

Authors: Luong T, Nisa Z,

Keywords: Large cell neuroendocrine carcinoma, sessile serrated lesion, microsatellite instability, MMR protein, BRAF mutation,

#1845 Mismatch Repair (MMR) Protein Expression is Uncommon in Poorly Differentiated Neuroendocrine Carcinoma

Introduction: Microsatellite instability (MSI) has been reported to occur in a significant proportion of neuroendocrine carcinoma (NEC) and mixed adenoneuroendocrine carcinomas (MANEC) (11 out of 89 cases, Sahnane et al, ERC 2015). It might be predictive of response to immunotherapy.

Conference: 14th Annual ENETSConcerence (2017)

Presenting Author: Hadoux J

Authors: Hadoux J, Malka D, Berdeloux A, Planchard D, Boige V,

Keywords: Neuroendocrine carcinoma, mismatch repair, microsatellite instability,

#174 Loss of Expression of the DNA Mismatch Repair Proteins MLH1 and MSH2 is Rare in Pancreatic and Small Intestinal Neuroendocrine Tumors

Introduction: Loss of expression of the DNA mismatch repair (MMR) proteins MLH1 and MSH2, which is known to correlate strongly with MSI, has not been well studied in pancreatic or small intestinal NETs.

Conference: 8th Annual ENETSConcerence (2011)

Presenting Author:

Authors: Rayson D, Arnason T, Sapp H, Barnes P, Drewniak M,

Keywords: microsatellite instability, tissue microarray, pnets, small intestinal nets,

#122 Molecular genetic findings in gastric carcinoid suggest possible neurofibromin/Ras pathway involvement in carcinoid pathogenesis

Introduction: The molecular pathogenesis of gastrointestinal carcinoid tumours is poorly understood. We have been undertaking molecular genetic investigations of a young woman with neurofibromatosis type 1 (NF1) in whom a gastric carcinoid tumor was detected following an episode of gastrointestinal bleeding. She was otherwise relatively mildly affected by NF1. In NF1, gastric carcinoids have been found previously only in patients with other predisposing factors, which were absent in this patient.

Conference: 7th Annual ENETSConcerence (2010)

Presenting Author: Tobias E

Authors: Tobias E, Fletcher A, Cooke A, Traynor J, Onen N,

Keywords: gastric carcinoid, neurofibromatosis, NF1, LOH, genetic, Ras,