Abstract library

11 results for "11q deletion".
#65 Deletions of 11q21-q25 are associated with atypical lung carcinoids and a poor clinical outcome
Introduction: Lung carcinoids comprise a group of smoking-unrelated neuroendocrine tumors, which can be classified in typical (TC) and atypical (AC) carcinoids. Classification is complex and its accuracy to predict disease outcome is variable. In a previous array comparative genomic hybridization (arrayCGH) study, we showed that the average number of chromosomal alterations (≥ 1Mb) was significantly higher in ACs than in TCs (512 v. 226 per tumor) and that the most common region of chromosome loss was 11q21-q25 (Neuroendocrinology 2009;90:136-137).
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: MSc Dorian RA Swarts
#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
#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
#360 High Resolution (Epi)genomic Analysis Comparing Pulmonary Carcinoids with a Favorable and a Poor Disease Outcome
Introduction: Lung carcinoids are a heterogenous group of neuroendocrine tumors. MEN1 mutations and 11q22-q25 deletions have been implied in their tumorigenesis. Very few genome wide and methylation studies have been conducted to further elucidate molecular mechanisms underlying tumorigenesis.
Conference:
Category: Basic
Presenting Author: Msc Dorian R.A. Swarts
#462 Genome-Wide Expression Profiling Reveals Downregulation of OTP and CD44 and Upregulation of RET as Indicators of Poor Prognosis in Lung Carcinoids
Introduction: Lung carcinoids comprise a heterogeneous group of neuroendocrine tumors. Only few parameters have been identified that correlated with poor disease outcome, including 11q22-q25 deletions. New biomarkers are required to further improve diagnosis and prediction of prognosis.
Conference: 9th Annual ENETS Conference (2012)
Category: Basic
Presenting Author: MSc Dorian Swarts
#471 Alterations of Global and Gene-Specific DNA Methylation in Midgut Carcinoids
Introduction: Epigenetic alterations of DNA methylation are known to be associated with the clinical presentation of midgut carcinoids.
Conference: 9th Annual ENETS Conference (2012)
Category: Basic
Presenting Author: Omid Fotouhi
#691 Pancreatic Focal Alpha Cell Hyperplasia with Hyperglucagonaemia without the Glucagonoma Syndrome
Introduction: Pancreatic alpha cell hyperplasia and hyperglucagonaemia without the glucagonoma syndrome is a rare clinical syndrome not widely recognised. Here we describe a novel mutation in the glucagon receptor gene (GCGR) in a patient with the disease.
Conference: 10th Annual ENETS Conference (2013)
Category: Pathology, grading, staging
Presenting Author: Helen Miller
Authors: Miller H, Baird D, Kidd M, Cohen P, ...
#1207 A Novel MEN1 Gene Variant in a Sporadic Case of Multiple Endocrine Neoplasia Type 1
Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the occurrence of hyperparathyroidism, pituitary adenomas and duodeno-pancreatic neuroendocrine tumours (NETs). Germline mutations of the MEN1 gene are identified in up to 87% of MEN1 families and 82% of isolated MEN1 cases.
Conference: 12th Annual ENETS Conference (2015)
Category: Clinical cases/reports
Presenting Author: MD Donato Iacovazzo
#1579 Establishment and Characterization of a Continuous Cell Line from a Human Familial Medullary Thyroid Carcinoma
Introduction: introduction missing
Conference: 13th Annual ENETS conference (2016)
Category: ...none of the above
Presenting Author: Roswitha Pfragner
#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