Abstract library

104 results for "mutations".
#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 (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Timon Vandamme
#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 (2018)
Category: Biomarkers
Presenting Author: Dr Anguraj Sadanandam
#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
#2965 Molecular Signature of Rectal Neuroendocrine Neoplasia
Introduction: Rectal neuroendocrine tumors are rare neuroendocrine neoplasias (NEN). Little is known about prevalence and type of somatostatin receptor subtypes (sstr) expression and somatic mutations in relation to long-term clinical outcome.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr. Nicole Unger
Authors: Unger N, Theurer S, Herold T, Weber F, ...
#2972 Characteristics and Management of Paragangliomas, 10 Years Experience
Introduction: Paraganglioma (PG) is a rare extra-adrenal neuroendocrine tumor, with common sites of presentation being abdomen, and head and neck region. The majority of PGs appear to be sporadic. However, almost half of cases are associated with an inherited syndrome. The highest malignancy rates are seen in paragangliomas (PGs) associated with SDHB mutations, which are usually abdominal and secretory.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Epidemiology/Natural history/Prognosis - Registries, nationwide and regional surveys
Presenting Author: MD Emilia Sardo
#2795 Molecular Correlation of the Activity of Evofosfamide (EVO) in Combination with Sunitinib (SUN) in Pancreatic Neuroendocrine Tumors (pNETs) in the SUNEVO GETNE Trial
Introduction: MEN1, DAXX, ATRX, and PI3K/AKT/mTOR pathway genes are frequently mutated in pNETs. Sunitinib is approved and widely used in the metastatic setting but unfortunately, no validated predictive biomarker has been identified to guide therapy yet. The SUNEVO phase II trial of the Spanish Task Force Group for Neuroendocrine and Endocrine Tumours (GETNE) trial combined the pro-drug of EVO under SUN-induced hypoxic conditions.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Trials in Progress/Trials in Concept
Presenting Author: Dr. Enrique Grande
#2936 Mutational Landscape of 109 High-Grade Gastroenteropancreatic Neuroendocrine Neoplasms G3
Introduction: Gastroenteropancreatic (GEP) neuroendocrine neoplasms (NEN) G3 are rare with a poor outcome. Molecular data for GEP NEN G3 is limited and the 2019 WHO classification is based on morphology and proliferation rate.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: MSc Andreas Venizelos
#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 (2013)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
Presenting Author: Joakim Crona