Abstract library

79 results for "Exome sequencing".
#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
#3028 Pancreatic Neuroendocrine Neoplasms: Dissecting the Molecular Heterogeneity
Introduction: Pancreatic neuroendocrine neoplasms (PNENs) are a group of rare but biologically and clinically heterogeneous neoplasms with variable patient outcomes. Little is known about the molecular differences between PNENs and the biologic significance of such divergence.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Chi-Fu Kevin Yang
Authors: Yang K C, Kalloger S, Aird J, Lee M, ...
#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
#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, ...
#2745 Integrative Genomic Characterization Identifies Molecular Subtypes of Lung Carcinoids
Introduction: Lung carcinoids (LCs) are rare and slow growing primary lung neuroendocrine tumors. The WHO classify LCs into atypical and typical carcinoids. Recent studies have shown that the reproducibility of LCs classification and its prognostic efficacy have high interobserver variability
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Saurabh V Laddha
#2974 MEK/RAF and PARP as Novel Targets in Neuroendocrine Neoplasms – First Results from a Molecular in vitro Tumor Board
Introduction: Neuroendocrine neoplasms (NEN) are a heterogeneous group comprising well differentiated neuroendocrine tumors (NET) and poorly differentiated neuroendocrine carcinomas (NEC). Although, major progress has been made in the development of targeted therapies in various cancers, establishment of a promising personalized therapy in NEN is still pending. So far, a lack of suitable preclinical models represent a major challenge concerning the validation of a mutational based targeted therapy (MBTT)
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - In vitro models, tumor growth, CTCs
Presenting Author: Fabrice Viol
Authors: Viol F, Sipos B, Amin T, Fahl M, ...
#3079 Novel Symptoms and Therapy of Multiple Endocrine Neoplasia Type 1
Introduction: MEN1 is a rare autosomal inherited disease with hallmark of hyperparathyroidism, duodenopancreatic NENs and pituitary tumor.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Case reports
Presenting Author: Jian-An Bai
Authors: Bai J A, Tang Q, ...
#658 Somatic Mutations in H-RAS in Sporadic Pheochromocytoma and Paraganglioma Identified by Exome Sequencing.
Introduction: Up to 60% of pheochromocytoma (PCC) and paraganglioma (PGL) are associated with mutations in established PCC and PGL susceptibility loci. A majority of unexplained cases are characterized by an increased activity of the RAS/RAF/ERK signalling pathway. Mutations in RAS subtypes H, K and N are common in human cancers, however, previous studies have been inconsistent regarding the mutational status of RAS in PCC and PGL.
Conference: 10th Annual ENETS Conference 2013 (2013)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
Presenting Author: Joakim Crona