Abstract library

424 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
#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
#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, ...
#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, ...
#22 A Case Illustrative of Phenotypic Heterogeneity and Challenges in the Management of Paraganglioma
Introduction: Paragangliomas (PGLs) are extra-adrenal, usually benign, highly vascularized tumors that originate from neural-crest-derived chromaffin cells. These tumors are subdivided as either sympathetic or parasympathetic, depending on their location and catecholamine production. Sympathetic PGLs are situated along the abdominal sympathetic trunk and usually produce catecholamines, whereas parasympathetic PGLs are located in the head and neck, and these usually do not produce catecholamines. PGLs may present as sporadic or inherited tumor syndrome, including MEN 2, with RET germline mutations, von Hippel-Lindau (VHL) disease due to germline mutations in VHL gene, and pheochromocytoma-PGL syndrome. The latter is frequently a hereditary condition and is caused by germline mutations in the SDHB, SDHC, or SDHC genes. Patients with familial PGLs may present at a younger age, often as multifocal tumors, with an increased risk of recurrence and a higher frequency of malignancy in those with SDHB mutations. SDH mutations induce angiogenesis and tumorogenesis through the inhibition of hypoxia-inducible factors (HIF)-propyl hyroxylase. A younger age at onset, malignancy, and a positive family history are clinical parameters of high specificity, but low sensitivity for diagnosis. Genetic analysis for mutations in SDH genes for the patient and family members, and surveillance for the affected patient and family members, are necessary where there are no clear clinical or family indicators for the syndrome. We present a case of a large abdominal malignant PGL in a 20-year-old pt. that went on without clinical detection for at least three years.
Conference: 7th Annual ENETS Conference (2010)
Category: Clinical
Presenting Author: Dr Mohammed Ahmed
#1551 Establishment and Characterization of Three GEP-NEC Cell Lines for In Vitro and In Vivo Studies
Introduction: To date chemotherapeutic concepts applying cisplatin/etoposide for the treatment of highly aggressive GEP-NEC do not provide convincing results. Thus, there is an urgent need for NEC cell line models that provide a reliable experimental system in identifying novel therapeutic targets.
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - In vitro models, tumor growth, CTCs
Presenting Author: Dr. Andreas Krieg
Authors: Krieg A, Riemer J C, Dizdar L, Mersch S, ...
Keywords: GEP-NEC
#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
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