Abstract library

42 results for "CpG island methylator phenotype".
#72 Reduced expression of p27 and the occurrence of CpG island methylator phenotype in insulinomas
Introduction: The molecular pathogenesis of sporadic insulinoma is unclear, though some of the genes were found to be slienced by promoter methylation. CpG island methylator phenotype (CIMP) was found in a number of common tumors and correlated with loss of expression of p27, which may contribute to the tumorigenesis of the tumors.
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: Dr Yuan-Jia Chen
Authors: Chen Y J, Zhou Q, Xiao Y, Zhu Y, ...
#1438 An Unusual Phenotype of Multiple Endocrine Neoplasia Type 1 with a Small Intestine Neuroendocrine Tumor Associated with Large Deletion of the MEN1 Gene
Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited tumor syndrome that is caused by germline mutations in the Menin suppressor gene on chromosome 11q13. Small intestine neuroendocrine neoplasias (SI-NEN) are currently not considered to be part of the phenotype of the MEN1-syndrome.
Conference: 13th Annual ENETS conference (2016)
Category: Clinical cases/reports
Presenting Author: MD Jerena Manoharan
#1199 Tumor Infiltrating Lymphocytes and PD-L1 Expression Differ in Low and High Grade Neuroendocrine Tumors
Introduction: Although much progress has been made in the past 2-3 years in terms of understanding signaling pathways in gastroenteropancreatic neuroendocrine tumors (GEP-NENs), approved treatment options are still limited. Cancer Immunotherapy has been announced as the breakthrough of the year in 2013 and might become an integral part of the clinical management strategy for solid tumors including GEP-NENs. Therefore, to develop immunotherapeutic strategies against NENs we need to know which immune escape mechanisms are relevant in high and low grade NEC/NENs.
Conference: 12th Annual ENETS Conference (2015)
Category: Biomarkers
Presenting Author: PD Dr. Patricia Grabowski
#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
#975 Electron Microscopy of Pancreatic Beta Cell Neuroendocrine Tumors (NETs) in Multiple Endocrine Neoplasia Type 1 (MEN1) Knockout Mice Reveal an Adenomatous Phenotype with Depletion of Insulin Granules and Increased Mitochondrial Content
Introduction: Insulinomas are β cell neuroendocrine tumors (NETs) that secrete insulin, and ~4% of insulinoma patients have multiple endocrine neoplasia type 1 (MEN1). One in ten MEN1 patients present with an insulinoma. Previous reports describe insulinomas as possibly having typical granules (46.4%) or atypical smaller granules (34.3%), both associated with adenomas, or agranular cells (14.3%) associated with carcinomas. MEN1 knockout (Men1+/-) mice develop pancreatic NETs that are mostly insulinomas, and their ultrastructural phenotype is unknown. We hypothesized that these may resemble the adenoma phenotype with atypical granules.
Conference: 11th Annual ENETS Conference (2014)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Dr Gerard V Walls
Authors: Walls G V, Clark A, Thakker R, ...
Keywords: GEP-NET
#1854 VHL Genotype Is Associated with Pancreatic Neuroendocrine Tumors (PNETs) Phenotype in Patients with Von Hippel-Lindau Disease (VHLD)
Introduction: 8-20% of patients with VHLD develop PNETs. However, there are no markers for PNETs progression in VHLD patients. The type of mutation in VHL gene is associated with clinical phenotype of VHLD.
Conference: 14th Annual ENETS conference (2017)
Category: Epidemiology/Natural history/Prognosis - Prognosis
Presenting Author: MD Amit Tirosh
Keywords: VHL, mutation, prognosis
#2196 The Neuroendocrine Phenotype, Genomic Profile, and Therapeutic Sensitivity of GEPNET Cell Lines
Introduction: Patient tumour-derived cell lines have been widely used for studying the molecular mechanisms of tumours and their response to therapy. The establishment of cell lines from gastro-entero-pancreatic neuroendocrine tumours (GEPNETs) has proved difficult, but despite the challenges a limited amount of cell lines now exists.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - In vitro models, tumor growth, CTCs
Presenting Author: Tobias Hofving
#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
#361 Rats heterozygous for the MENX-associated p27 mutation develop a MEN phenotype
Introduction: MENX is a spontaneous multiple endocrine neoplasia syndrome in the rat showing phenotypic overlap with both MEN1 and MEN2 human syndromes. MENX is caused by a biallelic germline mutation of the Cdkn1b (p27) gene and it was described as recessively inherited. CDKN1B alterations have been also identified in human patients with MEN1-like features but no MEN1 mutations (MEN4).
Conference:
Category: Basic
Presenting Author: PhD Sara Molatore
Authors: Molatore S, Neff F, Wiedemann T, Lee M, ...
Keywords: MEN, p27, MTC
#736 The Bone Metastasis Phenotype in Patients Diagnosed with Neuroendocrine Tumors
Introduction: Bone metastasis (BM) is actively searched especially in patients (p) with a long history of NET.
Conference: 10th Annual ENETS Conference (2013)
Category: Epidemiology/Natural history/Prognosis - Descriptive epidemiology
Presenting Author: Catalina Poiana
Authors: Carsote M, Ene C, Popescu M, Petris R, ...
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