Abstract library

51 results for "germline variants".
#2816 Germline Variants in Cancer Predisposing Genes in Young Adults with Neuroendocrine Tumors
Introduction: Advances in genomics have enabled the recognition of new cancer predisposing genes (CPG). There are few studies of CPG in neuroendocrine tumors (NET).
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Prof Rachel Riechelmann
#564 Genetic Alterations in Glucagon Cell Adenomatosis
Introduction: Glucagon cell adenomatosis (GCA) was recently recognized by us as a multifocal neoplastic disease of the endocrine pancreas unrelated to MEN-1. Multiple micro- and a few macrotumors are found on the background of a hyperplasia of glucagon cells. The disease may cause unspecific abdominal symptoms and only rarely a glucagonoma syndrome. Recently a mutation in the glucagon receptor (GCGR) gene was described in one GCA
patient.
Conference: 9th Annual ENETS Conference (2012)
Category: Clinical
Presenting Author: Dr. Tobias Henopp
Keywords: glucagon
#861 Targeted Next Generation Sequencing in the Screening for Familial Neuroendocrine Tumor Syndromes: A Tool for Personalized Medicine
Introduction: Multiple syndromes are described as conferring susceptibility to NETs; MEN1 & 2, NF1, familial PGL 1-5, TSC, VHL and germline mutations in the HIF2A, MAX, or TMEM127. Genetic testing covering these diagnoses may be extensively resource-demanding using traditional techniques due to the large extent of these loci.
Conference: 11th Annual ENETS Conference 2014 (2014)
Category: Biomarkers
Presenting Author: Joakim Crona
#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 (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Amit Tirosh
#2861 Targeted Next Generation Sequencing Analysis Reveals the Genetic Characteristics of Gastric Neuroendocrine Neoplasmas
Introduction: there are abundant information about the clinical therapy and pathological features of gastric neuroendocrine neoplasms (gNENs) but little about its genetic characteristics.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Chen Huang
#2780 Intracardiac Paragangliomas (PGLs): A Single-Institution Experience
Introduction: Intracardiac PGLs are extremely rare neuroendocrine tumors. There are few reported series in literature, indicating surgery as the most effective treatment modality.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Endocrine malignancies (MTC, pheochromocytoma) - diagnosis and therapy
Presenting Author: MD Maura Rossi
Authors: Rossi M, Bora G, Lanza G, Meda S, ...
#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
#2853 Succinate Dehydrogenase B (SDHB) Immunohistochemical Expression in Pancreatic Neuroendocrine Tumours and Correlation with Somatostatin Receptor Immunohistochemistry
Introduction: The established category of succinate dehydrogenase (SDH) deficient neoplasms includes several endocrine tumours with recent evidence that pancreatic neuroendocrine tumours (PNETs) could be included in this tumour group. The SDH complex is composed of four subunits (A-D) but loss of immunohistochemical (IHC) expression for SDHB indicates bi-allelic inactivation of any SDH component and is used as a marker for syndromic disease.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Pathology - grading, staging
Presenting Author: Dr. Niall Swan
Authors: Swan N, Nadeem N, Crowley R, ...
#2855 Whole Exome Sequencing Reveals the Monoclonal Origin of Gastric Mixed Adenoneuroendocrine Carcinomas
Introduction: Gastric mixed adenoneuroendocrine carcinomas (g-MANECs) are rare neoplasms consisting of adenocarcinoma and neuroendocrine neoplastic components. G-MANECs show more malignant characteristics than gastric adenocarcinomas, while molecular mechanisms underlying the co-existence of the two components remains unknown.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: M.D. Shida Yan
Authors: Yan S, Chen X, Zhang R, Song L, ...
#2958 The Blood-based Multigenomic NETest Accurately Identifies Neuroendocrine Transformed Prostate Cancer
Introduction: Neuroendocrine differentiation and an aggressive phenotype is an important feature of castration-resistant prostate cancer (CRPC). Current biomarkers are unable to detect these advanced, treatment refractory variants.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Biomarkers
Presenting Author: Professor Mark Kidd