Abstract library

257 results for "Somatic Mutations".
#2965 Molecular Signature of Rectal Neuroendocrine Neoplasia
Introduction: Rectal neuroendocrine tumors are rare neuroendocrine neoplasias (NEN). Little is known about prevalence and type of somatostatin receptor subtypes (sstr) expression and somatic mutations in relation to long-term clinical outcome.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr. Nicole Unger
Authors: Unger N, Theurer S, Herold T, Weber F, ...
#2795 Molecular Correlation of the Activity of Evofosfamide (EVO) in Combination with Sunitinib (SUN) in Pancreatic Neuroendocrine Tumors (pNETs) in the SUNEVO GETNE Trial
Introduction: MEN1, DAXX, ATRX, and PI3K/AKT/mTOR pathway genes are frequently mutated in pNETs. Sunitinib is approved and widely used in the metastatic setting but unfortunately, no validated predictive biomarker has been identified to guide therapy yet. The SUNEVO phase II trial of the Spanish Task Force Group for Neuroendocrine and Endocrine Tumours (GETNE) trial combined the pro-drug of EVO under SUN-induced hypoxic conditions.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Trials in Progress/Trials in Concept
Presenting Author: Dr. Enrique Grande
#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, ...
#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, ...
#2861 Targeted Next Generation Sequencing Analysis Reveals the Genetic Characteristics of Gastric Neuroendocrine Neoplasmas
Introduction: there are abundant information about the clinical therapy and pathological features of gastric neuroendocrine neoplasms (gNENs) but little about its genetic characteristics.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Chen Huang
#2972 Characteristics and Management of Paragangliomas, 10 Years Experience
Introduction: Paraganglioma (PG) is a rare extra-adrenal neuroendocrine tumor, with common sites of presentation being abdomen, and head and neck region. The majority of PGs appear to be sporadic. However, almost half of cases are associated with an inherited syndrome. The highest malignancy rates are seen in paragangliomas (PGs) associated with SDHB mutations, which are usually abdominal and secretory.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Epidemiology/Natural history/Prognosis - Registries, nationwide and regional surveys
Presenting Author: MD Emilia Sardo
#2936 Mutational Landscape of 109 High-Grade Gastroenteropancreatic Neuroendocrine Neoplasms G3
Introduction: Gastroenteropancreatic (GEP) neuroendocrine neoplasms (NEN) G3 are rare with a poor outcome. Molecular data for GEP NEN G3 is limited and the 2019 WHO classification is based on morphology and proliferation rate.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: MSc Andreas Venizelos
#271 A Novel Missense Mutation of the TMEM127 Gene that Leads to Pheochromocytoma Phenotype
Introduction: Recently, truncating germline mutations in TMEM127 gene have been identified in 30% of familial cases of adrenal pheochromocytoma (PHEO) and in 3% of apparently sporadic cases.
Conference: 8th Annual ENETS Conference (2011)
Category: Basic
Presenting Author: Rita Domingues