Abstract library

123 results for "Deletion mutation".
#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
#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
#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
#99 Gene mutations and Hypoxia Inducible Factor (HIF-1) expression as prognostic-predictive factors in pheochromocytomas/paragangliomas (P/P)
Introduction: P/P are rare tumors sporadically associated with familial disorders. In advanced/unresectable disease, no standard treatment has so far been well established. Recently a mutation of some genes (SDHB, SDHC, SDHD) involved in the pathogenesis of familial P/P was discovered. These mutations are often associated with an over-expression of HIF-1, which plays a central role in angiogenesis and cell proliferation. This pathway is known to be inhibited by some targeted therapies, such as sunitinib or sorafenib.
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: Emilio Bajetta
#1160 Exclusive Hotspot Mutation of YY1 Gene in Insulinomas and Extensive Mutation of DAXX in PNETs
Introduction: Somatic mutation of YY1 was shown in sporadic insulinoma, the main type of functional PNET. DAXX mutation occurred mainly in NF-PNET. However, YY1 and DAXX mutations in non-insulinomas and insulinomas, respectively, have not been well elucidated.
Conference: 12th Annual ENETS Conference (2015)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Dr Yuan-Jia Chen
Authors: Song Y L, Qiao X W, Bai C M, Lu C M, ...
Keywords: YY1, daxx, mutation, PNET
#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
#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
#1329 The MEN2B Due to de Novo Mutation M918T at Algiers
Introduction: The MEN2B, or Gorlin syndrome is a very rare disorder where there are a medullary cancer of thyroide associated with pheochromocytoma and other clinical signs such as a ganglion – neuromatose or a Marfan syndrome. The MEN2B belongs MEN2 are rare hereditary disease, transmitted as an autosomal dominant mutations linked to the RET proto-oncogene.
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Professor Chikouche Ammar
Authors: Chikouche A, ...
#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