Abstract library

151 results for "whole 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
#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, ...
#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
#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, ...
#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, ...
#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
#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
#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 (2014)
Category: ...none of the below
Presenting Author: PhD Ilaria Marinoni
Keywords: pNET, Daxx, Atrx, ALT, CIN
#977 Inducing, Understanding and Overcoming Resistance to Everolimus in Pancreatic Neuroendocrine Tumors
Introduction: Treatment with the mTOR-inhibitor everolimus improves progression-free survival in advanced pancreatic neuroendocrine tumors (PNETs). However, adaptive resistance to mTOR inhibition is described.
Conference: 11th Annual ENETS Conference 2014 (2014)
Category: Basic Science - mTOR and other pathways, signalling, receptors
Presenting Author: Timon Vandamme
Keywords: everolimus