Abstract library

15 results for "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 ENETS Conference (2011)
Category: Basic
Presenting Author: Dr Daniel Rayson
Authors: Rayson D, Arnason T, Sapp H, Barnes P, ...
#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 ENETS conference (2017)
Category: Biomarkers
Presenting Author: Dr Julien Hadoux
#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 ENETS conference (2018)
Category: Case reports
Presenting Author: Dr Tu Vinh Luong
Authors: Luong T V, Nisa Z, ...
#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 ENETS Conference (2010)
Category: Basic
Presenting Author: Dr Edward S Tobias
#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 ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Jaume Capdevila
#1245 Identification of Response Predictors to Temozolomide-Based Chemotherapy
Introduction: Capecitabine and temozolomide are active in the treatment of metastatic pNETs, with response rates ranging from 30% to 70%. Several small retrospective series have suggested that MGMT deficiency may predict response to temozolomide, however expression of MGMT has not been validated as a predictive biomarker. Cytotoxic chemotherapy is thought to be most active in aggressive tumors, however the ki-67 index has not been formally evaluated as a predictive factor. It is unclear whether chromosomal instability (which correlates with alternate lengthening of telomeres) predicts response.
Conference: 12th Annual ENETS Conference (2015)
Category: Biomarkers
Presenting Author: Dr. Mauro Cives
#1523 Multiregion Analysis Reveal Evolutionary Patterns and a Chromosomal Instability Signature in Pancreatic Neuroendocrine Tumours
Introduction: Pancreatic neuroendocrine tumors (PNETs) are potentially lethal diseases that show variable degrees of proliferation and invasiveness. Although genetic subgroups have been suggested to give prognostic information the impact of clonal evolution to the development and outcome of PNETs remains unexplored.
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Joakim Crona
#856 DAXX and ATRX Loss Defines Chromosomal Instability and Poor Outcome in Pancreatic NET
Introduction: Chromosomal Instability (CIN) has been reported in pancreatic neuroendocrine tumors (pNETs) with poor outcome. However, no specific genetic background has been associated with CIN. Whole exome sequencing revealed mutations in DAXX (Death domain associated protein gene) and ATRX (ATR-X gene) in 40% of pNETs. DAXX and ATRX mutations in pNETs are associated with Alternative Lengthening of Telomeres (ALT) activation.
Conference: 11th Annual ENETS Conference (2014)
Category: ...none of the below
Presenting Author: PhD Ilaria Marinoni
Keywords: pNET, Daxx, Atrx, ALT, CIN
#1087 Gastro-Entero-Pancreatic Mixed Adenoneuroendocrine Tumors. Report of Four Cases.
Introduction: Mixed adenoneuroendocrine carcinomas (MANECs) is an uncommon entity with ill-defined clinicopathologic characteristics.
Conference: 12th Annual ENETS Conference (2015)
Category: Pathology, grading, staging
Presenting Author: Georgia Karayannopoulou
#1312 Epigenetic Remodeling upon DAXX and ATRX Loss in Pancreatic Neuro-endocrine tumors (pNETs)
Introduction: DAXX and or ATRX loss occur in 40% of sporadic pNETs. DAXX and ATRX participate in the cell epigenetic status maintenance. Epigenetic changes influence gene expression, function of telomeres and genomic stability. We hypothesize that DAXX/ATRX loss drives tumor progression in pNET through epigenetic changes affecting genomic stability.
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Ilaria Marinoni
Keywords: DAXX/ATRX, epigenetic, CIN