Abstract library

8 results for "bioinformatics".
#3056 Multi-Omic Characterization and Evolution of Neuroendocrine Neoplasm Organoids
Introduction: Molecular characterizations of neuroendocrine neoplasm (NENs) have unveiled candidate alterations associated with aggressiveness and suggested that the molecular link between neuroendocrine tumors (NETs) and neuroendocrine carcinomas (NECs) might be subtler than initially thought. For example, we have recently unveiled a new entity of pulmonary carcinoids (supra-carcinoids) with carcinoid-like morphology yet the molecular and clinical features of large cell neuroendocrine carcinoma (LCNEC). Testing hypotheses to explain aggressiveness and the possibility of progression or transition from NET to NEC through the accumulation of genetic anomalies requires in vitro and in vivo experimental models.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Matthieu Foll
#2781 Case Report: Whole Exon Sequencing of Primary Lesion and Metastatic Liver Lesion in Pancreatic Neuroendocrine Tumor
Introduction: Pancreatic neuroendocrine neoplasms(NENs) are classified into neuroendocrine tumors (NET) G1, G2, G3, and neuroendocrine carcinoma (NEC), which are different pathogenesis. The two kinds of tumors that occurs in the same lesion in one patient is very rare. We found high grade neuroendocrine neoplasms(NENG3) with a diameter of 0.1 cm in a patient with a pancreatic NETG2 (1.7 cm in diameter). The cells were significant atypia with Ki67 index of 60%, focal necrosis, while metastatic nodules in the liver (12, 0.1-1.1 cm in diameter) were all high grade NENG3.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Case reports
Presenting Author: Yanfen Shi
Authors: Shi Y, Zhong D, Li Y, Niu Y, ...
#2785 Inhibition of Cyclin Dependent Kinases Overcomes MYC-Driven Secondary Resistance to Everolimus in Digestive NETs
Introduction: Dysregulation of the mTOR pathway in digestive neuroendocrine tumours (d-NETs) led to the introduction of Everolimus (EVE) as treatment. EVE significantly increases PFS, but most patients acquire resistance, due to activation of feedback loops.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Signaling pathways, receptors, biomarkers
Presenting Author: Md, PhD Gabriele Capurso
#20 Paraneoplastic antigen Ma2 (PNMA2) auto-antibodies as biomarkers for early small intestine neuroendocrine tumors detection
Introduction: Small intestine neuroendocrine tumors (NETs) comprise well-differentiated NET (benign carcinoid), well-differentiated neuroendocrine carcinoma (malignant carcinoid) and poorly differentiated neuroendocrine carcinoma (NEC). The majority of NET patients have developed liver metastases at the time of diagnosis and surgery is then seldom curative. Novel predictive, diagnostic and prognostic markers are thus needed to improve our capabilities to diagnose and cure these tumors. We have previously identified six novel marker genes for neuroendocrine tumor cells by using Affymetrix microarrays and advanced bioinformatics. One of this markers, the paraneoplastic antigen Ma2 (PNMA2), which is normally expressed only in nervous tissue, can in the process of carcinogenesis be detected in tumors located outside the nervous system. The finding that Ma2 is expressed in small intestine neuroendocrine primary tumors and their metastases made it interesting to screen whether antibodies against Ma2 are present in the serum of NET patients.
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: PhD Valeria Giandomenico
Authors: Cui T, Elgue G, Li S C, Hurtig M, ...
#366 Next Generation Sequencing is a Cost Effective and Time Saving Method in Clinical Genetic Screening of Patients with Pheochromocytomas
Introduction: Pheochromocytomas are rare tumours arising from adrenal medulla. Recent findings show that about 30-40% of pheochromocytomas are caused by germline mutations in one of the ten hereto known susceptibility genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, RET, VHL, NF1, TMEM127 and MAD. This list of genes is constantly growing. These ten genes together consist of 128 exons and a genetic screening test is both extensive time-consuming and expensive. We introduce utilizing Next generation sequencing as a fast and cost effective method.
Conference:
Category: Basic
Presenting Author: Mr. Joakim Crona
#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
#1467 iFiT: An Integrative Bioinformatics Platform for Biomarker and Target Discovery. A Case Study in Neuroendocrine Tumors
Introduction: iFiT (Ipsen Focused-on-new bIological enTities and biomarkers) is a Bioinformatics platform integrating systems biology functionalities together with semantic & logic-based artificial intelligence within a high-scale computing environment.
Conference: 13th Annual ENETS conference 2016 (2016)
Category: Biomarkers
Presenting Author: PhD Sebastien Tourlet
Keywords: Targets iFiT
#2281 A Novel Classification of Pancreatic Neuroendocrine Tumors (pNETs) Guided by Genomics
Introduction: NET outcomes differ by primary site. Yet pNETs are classified using a generic GI grading system.
Conference: 15th Annual ENETS conference 2018 (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Kate Parker