Abstract library

88 results for "germline mutations".
#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
#273 The Succinate Dehydrogenase Genetic Testing in Patients with Extra-adrenal Paragangliomas: The Portuguese Cancer Center (Lisboa) Experience
Introduction: Extra-adrenal paragangliomas (PGLs) occur as sporadic or familial entities, the latter mostly in association with germline mutations of the SDHB, SDHC or SDHD genes.
Conference: 8th Annual ENETS Conference (2011)
Category: Basic
Presenting Author: Rita Domingues
#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
#1906 High Prevalence of the c.1546delC Germline Mutation in MEN1 Pancreatic Neuroendocrine Tumors
Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease predisposing to pancreatic neuroendocrine neoplasms (NENs). Even though its genetics is relatively well known, specific phenotype-genotype correlations remain unproven at present. The Region of Murcia in southeast Spain is one of the areas with the highest incidence of MEN1
Conference: 14th Annual ENETS conference (2017)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Alberto Carmona-Bayonas
Keywords: MEN1 genetics
#838 Succinate Dehydrogenase Subunit B (SDHB) Immunohistochemistry Should Not Replace Clinical Genetic Testing for SDHx Mutations in Patients with Pheochromocytoma and Paraganglioma
Introduction: Mutations in any of the subunits of the succinate dehydrogenase (SDH) complex predispose to PCC/PGL. Knowing the germline mutation is important for surveillance for recurrence, metastatic disease or more primary tumors and for screening affected family members. Expression of SDHB protein by immunohistochemistry (IHC) has been proposed as a surrogate marker for SDHx mutation status, with absent or decreased expression of SDHB suggesting the presence of a germline SDHB mutation or disruption of the SDH complex by mutation in another subunit.
Conference: 11th Annual ENETS Conference (2014)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
Presenting Author: Lauren Fishbein
#2234 High Rate of Copy-Number Alterations in Gastrointestinal and Pancreatic Neuroendocrine Tumors with Unidentified Driver Mutations
Introduction: The driving genetic alteration leading to neuroendocrine tumor (NET) development has been reported for primary tumors of pancreatic origin, but not for metastases. Moreover, even for primary tumor a significant “dark matter” remains to be explored.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Amit Tirosh
#276 Mammalian Target of Rapamycin Pathway Activation is Associated with RET Mutation Status in Medullary Thyroid Carcinoma
Introduction: The genetic pathways involved in medullary thyroid carcinoma (MTC), except for RET mutations, are largely unknown, as well as the detailed expression mapping of intracellular signalling transducers.
Conference: 8th Annual ENETS Conference (2011)
Category: Basic
Presenting Author: MD Marco Volante
#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
#89 Hyperplasia-adenoma sequence in pituitary carcinogenesis: new insight into the role of AIP gene
Introduction: Pituitary adenoma predisposition has been recently associated with germline mutations in the Aryl-Hydrocarbon Receptor Interacting Protein (AIP) gene. This association has been detected in familial and, more rarely, in sporadic cases. The mechanisms by which the AIP mutations promote pituitary adenoma development remain unknown.
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: MD Chiara Villa
#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