Abstract library

745 results for "genetic analysis".
#62 Genome-wide DNA methylation profiling of pancreatic neuroendocrine tumors identifies distinct methylation profiles and differentially methylated gene promoter regions associated with low, medium and high grade tumors
Introduction: Integration of genetics and epigenetics has emerged as a powerful approach to studying cellular differentiation (Mikkelsen et al, 2009) and tumorigenesis (Shen et al, 2007). The study of DNA methylation is of particular importance in cancer, as causal involvement has been demonstrated and it is the most stable of all epigenetic modifications, making it a desirable marker for both early detection and treatment of tumors. Hypermethylation of CpG sites in gene promoter regions leads to decreased gene expression; if such a gene is a tumor suppressor, this leads to carcinogenesis. To date, there have been no studies of genome-wide DNA methylation profiling of NETs. This study sets out to determine the DNA methylation profiles of low, intermediate and high grade pancreatic NET liver metastases with the intention of identifying dysregulated biological pathways in the development of these tumors. A protocol for the analysis formalin-fixed paraffin embedded tissue (FFPE) has also been developed in order to study these tumors in significant numbers following this pilot study.
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: Dr Christina Thirlwell
#40 Clinical and prognostic implications of the genetic diagnosis of hereditary NET syndromes in asymptomatic patients
Introduction: Neuroendocrine tumors (NETs) are rare neoplasms, heterogeneous, and with variable biological behavior. NETs can be sporadic or they can arise in complex endocrine hereditary syndromes such as Multiple Endocrine Neoplasias (MEN), Familial Paragangliomatosis (FPGL), Neurofibromatosis type 1 (NF1), von Hippel-Lindau Disease (VHL), Tuberous Sclerosis (TSC) and Carney Complex (CC). By performing genetic screening, patients with hereditary NETs can be identified before the development of tumors.
Conference: 7th Annual ENETS Conference (2010)
Category: Clinical
Presenting Author: Antongiulio Faggiano
#2128 Epigenetic Changes in DAXX and/or ATRX Negative Pancreatic Neuro-Endocrine Tumors
Introduction: The most commonly mutated genes in Pancreatic Neuroendocrine Tumors (PanNETs) are MEN1, DAXX and ATRX, which encode for proteins involved in epigenetic regulation. DAXX/ATRX mutated PanNETs are globally hypomethylated and behave clinically in a more aggressive way. Tumor pathways associated with these changes are still unclear. We hypothesize that DAXX/ATRX and MEN1 mutations mediate PanNET progression via epigenetic dysregulation.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Annunziata Di Domenico
#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
#2093 Genetic Analysis Identifies Subgroups of Small Well-Differentiated Pancreatic Neuroendocrine Tumors with Different Risk for Liver Metastases
Introduction: Small size well-differentiated pancreatic neuroendocrine tumors (PanNETs) behave non-aggressively. However, a limited subset progresses with liver metastases.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Antonio Pea
Authors: Pea A, Yu J, Marchionni L, Noe M, ...
#969 Identification of Hypoxia Induced Epigenetic Changes in the Development of Pancreatic Neuroendocrine Tumors
Introduction: In VHL syndrome, pancreatic NETs develop through bi-allelic inactivation of VHL with subsequent HIF pathway activation. This also occurs in sporadic pancreatic NETs.
Conference: 11th Annual ENETS Conference (2014)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Dr Harpreet K Dibra
#167 Localization of Sporadic Neuroendocrine Tumors by Gene expression Analysis of Their Metastases
Introduction: Primary neuroendocrine tumors (NETs) are rare and often difficult to detect, leading to diagnosis late in their development. Cases in which the primary cannot be located are denoted as CUP-Syndrome.
Conference: 8th Annual ENETS Conference (2011)
Category: Basic
Presenting Author: Dipl. Biol. Nicole Posorski
#179 A Variant Pancreatic Insulinoma in MEN1 Syndrome Characterized by Normoglycemia/Normoinsulinemia but Abnormal C-Peptide and Abnormal Proinsulin Levels
Introduction: Insulinoma associated w/ hyperinsulinemia is frequent in functioning pancreatic NET in MEN 1. We report on familial variant insulinoma w/ normoglycemia/norminsulinemia, but abnormal C-peptide and proinsulin.
Conference: 8th Annual ENETS Conference (2011)
Category: Clinical
Presenting Author: Dr. Mohammed NMI Ahmed
Authors: Ahmed M, Al Qaraawi A, Al Faifi J, ...
#976 Upregulation of Somatostatin Receptor Type 2 Expression in Neuroendocrine Tumors by Epigenetic Modulation
Introduction: The somatostatin receptor type 2 (sst2) is a target for treatment of neuroendocrine tumors (NETs). However, epigenetic mechanisms might account for the high variability in sst2 expression and treatment response between patients.
Conference: 11th Annual ENETS Conference (2014)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: MSc Marije J Veenstra
Keywords: GEP-NET, sst2, epigenetics
#820 ACTG2 Inhibits Growth and Is Epigenetically Repressed in Small Intestinal Neuroendocrine Tumors
Introduction: Small intestinal neuroendocrine tumors (SI-NETs) originate from the enterochromaffin cells in the ileum. Actin gamma smooth muscle 2 (ACTG2) is downregulated in lymph node metastases from SI-NETs. ACTG2 and microRNA-145 (miR-145) are aberrantly expressed in other cancers and ACTG2 can be induced by miRNA-145.
Conference: 11th Annual ENETS Conference (2014)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: PhD candidate Katarina Edfeldt