Abstract library

503 results for "genetic studies".
#883 Primary Hepatic Neuroendocrine Tumors: Four Familial Case Series with Review of Literature
Introduction: Non-multiple endocrine neoplasia (MEN) familial neuroendocrine tumors (NET) are very rare with only six families being described to date. Primary hepatic neuroendocrine tumors (PHNETs) are rare tumors with a particular sporadic diagnosis. Herein, we report a series of four members of one Lebanese family, diagnosed with primary hepatic neuroendocrine tumors.
Conference: 11th Annual ENETS Conference (2014)
Category: Clinical cases/reports
Presenting Author: Dr Rita E Assi
#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
#2988 Epigenetic Treatment with Histone Deacetylase Inhibitor Enhances Uptake of [111In]In-DOTA-TATE by Increased SST2 Expression on Neuroendocrine Tumor Cells
Introduction: The somatostatin-2 receptor (SST2) is a target for peptide receptor radionuclide therapy (PRRT) in neuroendocrine tumors (NETs). By using epigenetic drugs, which can regulate gene transcription, PRRT efficacy may be further improved due to enhanced SST2 expression.
Conference: 17th Annual ENETS Conference (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: MSc Ilva Klomp
#400 Challenges in the Management of a Disseminated Malignant Abdominal Paragangliom (MPGL)
Introduction: Despite current availability of large array of Rx modalities, management of MPGLs still pose a challenge.
Conference: 9th Annual ENETS Conference (2012)
Category: Clinical
Presenting Author: Dr. Mohammed Ahmed
Authors: Ahmed M, Ameen T, Bazarbashi S, ...
#262 Changes on Chromosome 18 are Involved in Sporadic and Familial Ileal Carcinoid Tumor Development
Introduction: Small intestine neuroendocrine tumors (ileal carcinoid) is generally considered a sporadic disease. We have identified nine families with an ileal carcinoid tumor diagnosed in two or more individuals.
Conference: 8th Annual ENETS Conference (2011)
Category: Clinical
Presenting Author: Professor Eva Tiensuu Janson
#2283 Ultra-Deep Targeted Resequencing Reveals Recurrent DAXX and CYFIP2 Mutations and Implicates Novel Pathways in Pancreatic Neuroendocrine Tumors
Introduction: Recent studies in pancreatic neuroendocrine tumors have identified mutations in DAXX/ATRX, MEN1, and genes involved in the phosphoinositide-3-kinase/Akt/mammalian target of rapamycin (PI3K-Akt-mTOR) pathway. However, these studies focused on abundant mutations.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Timon Vandamme
#3072 Rb and p53 Status Determination by Immunochemistry Is Complementary in Routine Practice to Genetic Testing of Neuroendocrine Neoplasms
Introduction: Rb and p53 status may help distinguishing well from poorly differentiated neuroendocrine neoplasms (NEN) and may predict response to chemotherapy. Studies correlating Rb/p53 genetic and immunohistochemistry were performed on high-quality frozen samples with high throughput techniques efficient for copy number determination. This situation differs from routine practice in which small deletions may be hard to detect on formalin-fixed paraffin-embedded (FFPE) samples with a gene panel approach.
Conference: 17th Annual ENETS Conference (2020)
Category: Biomarkers
Presenting Author: Dr Jerome Cros
#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, ...
#2905 DNA Methyltransferase Inhibitor Hydralazine Induces Upregulation of Somatostatin Type 2 Receptors in Human Neuroendocrine Tumor Cells
Introduction: Epidrugs like DNA methyltransferase inhibitors (DNMTi) can increase somatostatin receptor type 2 (SST2) expression in neuroendocrine tumor (NET) cells in vitro and in vivo. This effect could be used for NET patients with low SST2 expression who are currently ineligible for somatostatin analogue (SSA) treatment. However, the DNMTi known to stimulate SST2 have either a high toxicity profile or are not yet approved.
Conference: 17th Annual ENETS Conference (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Julie Refardt
#1663 Development of Neuroendocrine Tumors in Patients with a Family History of NET or Any Other Cancer
Introduction: Neuroendocrine tumors are rare. A very little knowledge is known about its risk factors. Studies have shown that NETs may develop as a part of hereditary syndromes.
Conference: 14th Annual ENETS conference (2017)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Arooj Fatima
Authors: Fatima A, Zaidi S S A, ...
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