Abstract library

85 results for "subtype-specific mutations".
#2215 Development of Multiplex Biomarker Assay to Subtype Pancreatic Neuroendocrine Tumors (PanNETs) with Distinct Prognosis and Mutations
Introduction: Overall 5-year survival for PanNETs ranges from 25-100%. The treatment paradigm for PanNETs largely based upon grades, which is significantly heterogeneous. We previously defined three molecular subtypes (distributed grades) of PanNETs using PanNETassigner signature. There is an unmet clinical need for prognostic and predictive biomarkers and clinically-relevant assays to complement grade and improve patient stratification.
Conference: 15th Annual ENETS conference (2018)
Category: Biomarkers
Presenting Author: Dr Anguraj Sadanandam
#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
#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
#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
#658 Somatic Mutations in H-RAS in Sporadic Pheochromocytoma and Paraganglioma Identified by Exome Sequencing.
Introduction: Up to 60% of pheochromocytoma (PCC) and paraganglioma (PGL) are associated with mutations in established PCC and PGL susceptibility loci. A majority of unexplained cases are characterized by an increased activity of the RAS/RAF/ERK signalling pathway. Mutations in RAS subtypes H, K and N are common in human cancers, however, previous studies have been inconsistent regarding the mutational status of RAS in PCC and PGL.
Conference: 10th Annual ENETS Conference (2013)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
Presenting Author: Joakim Crona
#775 Whole Exome Sequence Of BON-1 And QGP-1, Two Human Pancreatic Neuroendocrine Tumor Cell Lines, Reveals Homozygous Loss Of Function Mutations In TP53, HRNR and CYFIP2.
Introduction: The human BON-1 and QGP-1 cell lines are two models often used in pancreatic neuroendocrine tumor (PNET) research. Data on protein-changing mutations in these cell lines is lacking.
Conference: 10th Annual ENETS Conference (2013)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
Presenting Author: Timon Vandamme
#1380 Assessment of the Growth Rate of Paragangliomas Related to SDHx Gene Mutations Using Computed Tomography.
Introduction: SDHx mutations are associated with a lifelong risk of multifocal paragangliomas (PGL), so patients need regular follow-up examinations.
Conference: 13th Annual ENETS conference (2016)
Category: Epidemiology/Natural history/Prognosis - Prognosis
Presenting Author: Ilona Michałowska
#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
#2180 BRAF-V600E Driven Mutations in Grade 3 Neuroendocrine Carcinomas of Colon Origin: Results from Genomic/Epigenomic Profilings and Patient-Derived Mouse Model
Introduction: NECs of colon origin are orphan and highly aggressive neoplasms with limited molecular knowledge.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Jaume Capdevila