Abstract library

162 results for "whole exon sequencing".
#2781 Case Report: Whole Exon Sequencing of Primary Lesion and Metastatic Liver Lesion in Pancreatic Neuroendocrine Tumor
Introduction: Pancreatic neuroendocrine neoplasms(NENs) are classified into neuroendocrine tumors (NET) G1, G2, G3, and neuroendocrine carcinoma (NEC), which are different pathogenesis. The two kinds of tumors that occurs in the same lesion in one patient is very rare. We found high grade neuroendocrine neoplasms(NENG3) with a diameter of 0.1 cm in a patient with a pancreatic NETG2 (1.7 cm in diameter). The cells were significant atypia with Ki67 index of 60%, focal necrosis, while metastatic nodules in the liver (12, 0.1-1.1 cm in diameter) were all high grade NENG3.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Case reports
Presenting Author: Yanfen Shi
Authors: Shi Y, Zhong D, Li Y, Niu Y, ...
#2855 Whole Exome Sequencing Reveals the Monoclonal Origin of Gastric Mixed Adenoneuroendocrine Carcinomas
Introduction: Gastric mixed adenoneuroendocrine carcinomas (g-MANECs) are rare neoplasms consisting of adenocarcinoma and neuroendocrine neoplastic components. G-MANECs show more malignant characteristics than gastric adenocarcinomas, while molecular mechanisms underlying the co-existence of the two components remains unknown.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: M.D. Shida Yan
Authors: Yan S, Chen X, Zhang R, Song L, ...
#2896 Comparative Genomic Analysis of High Grade Neuroendocrine Neoplasms across Diverse Organs
Introduction: Grade 3 neuroendocrine neoplasms (G3 NENs), if poorly differentiated, have a median survival of 10-19 months. Little is known regarding biologic differences between G3 NENs from different primary sites, most commonly GI and lung.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Thomas Yang Sun
#2982 Comprehensive Molecular Analysis Identifies Driver Mutations in Metastases of Sporadic Well-Differentiated Neuroendocrine Tumours of the Small Intestine
Introduction: Small intestinal neuroendocrine tumours (SI-NETs) represent a heterogenous group of tumours. The molecular mechanisms which contribute to progression of SI-NETs are poorly elucidated. They are considered to be molecularly distinct from neuroendocrine carcinomas (NECs), which share oncogenic pathways with adenocarcinomas.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Drs Kris Samsom
#2920 Mutation Spectrums Analysis of Colorectal Adenocarcinoma and Neuroendocrine Neoplasm Based on Same Genetic Background to Reveal Tumorigenesis
Introduction: The tumorigenesis of neuroendocrine neoplasm (NEN) are still ambiguous. The therapies of NENs in colon or rectum refer to adenocarcinomas (AC) when tumor metastasis, but the response was unsatisfactory which inspired us to explore the mutation difference.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr. Wen Cai
Authors: Cai W, Ge W, Wu D, Mao J, ...
#366 Next Generation Sequencing is a Cost Effective and Time Saving Method in Clinical Genetic Screening of Patients with Pheochromocytomas
Introduction: Pheochromocytomas are rare tumours arising from adrenal medulla. Recent findings show that about 30-40% of pheochromocytomas are caused by germline mutations in one of the ten hereto known susceptibility genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, RET, VHL, NF1, TMEM127 and MAD. This list of genes is constantly growing. These ten genes together consist of 128 exons and a genetic screening test is both extensive time-consuming and expensive. We introduce utilizing Next generation sequencing as a fast and cost effective method.
Conference:
Category: Basic
Presenting Author: Mr. Joakim Crona
#775 Whole Exome Sequence Of BON-1 And QGP-1, Two Human Pancreatic Neuroendocrine Tumor Cell Lines, Reveals Homozygous Loss Of Function Mutations In TP53, HRNR and CYFIP2.
Introduction: The human BON-1 and QGP-1 cell lines are two models often used in pancreatic neuroendocrine tumor (PNET) research. Data on protein-changing mutations in these cell lines is lacking.
Conference: 10th Annual ENETS Conference 2013 (2013)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
Presenting Author: Timon Vandamme
#2964 Personalized Therapy in a Case of Esophageal NEC Based on Tumor Genome Sequencing
Introduction: High-grade esophageal neuroendocrine carcinomas (NEC) constitute a rare subgroup of neuroendocrine neoplasms, with a particularly aggressive behaviour and unfavourable prognosis. To date, there are no validated biomarkers for personalized therapy and cytotoxic chemotherapy remains the standard of care. However, tumor genome sequencing may help improve NEC molecular landscape knowledge in order to identify novel targets for an individualized approach.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Case reports
Presenting Author: MD Anna La Salvia
#2975 Next Generation Sequencing of Pancreatic Neuroendocrine Tumors in Russian Cohort
Introduction: The appearance of next generation sequencing (NGS), - a powerful high-performance method, allowed accumulation of a large amount of information concerning genetic and epigenetic patterns, however, the problem of matching clinical, histological picture with genetic structure in pNETs remains open.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Trials in Progress/Trials in Concept
Presenting Author: PhD Vladimir Trifanov
#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 ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Caterina Vicentini