Abstract library

10 results for "Tsang".
#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
#453 Activation of Hedgehog Pathway in Neuroendocrine Tumor
Introduction: Neuroendocrine tumors (NETs) are rare tumors and often follow an indolent course, especially the tumors of low-to-intermediate grade. The genetic etiology of sporadic NET is largely unknown. It is well-known that a significant number of patients with NETs may have harbored the slow-growing lesions since very a young age, suggesting it could result from alterations of pathways involved in development. Hedgehog (Hh) signaling has been found to be important in embryonic patterning, stem cell maintenance and tissue repair; and is normally silenced in most mature adult tissue. However, it frequently undergoes gain-of-function mutations or reactivation due to ligand overproduction and has been linked to the etiology of a variety of tumors.
Conference: 9th Annual ENETS Conference (2012)
Category: Basic
Presenting Author: MD Mei Dong
#722 Isolation and Whole Genome Amplification of Single Circulating Tumor Cells in Neuroendocrine Tumors: A Pilot Study
Introduction: We have previously demonstrated that Circulating Tumor Cells (CTCs) can be detected in patients with neuroendocrine tumors (NET) and that their presence is prognostic. Downstream analysis of CTCs provides an opportunity to explore their potential as biomarker for targeted therapy. Here we present initial data which demonstrates that molecular profiling can be successfully performed on single CTCs from patients with NETs
Conference: 10th Annual ENETS Conference (2013)
Category: Basic Science - In vitro models, tumor growth, CTCs
Presenting Author: Dr Dalvinder Mandair
#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)
Category: Biomarkers
Presenting Author: Joakim Crona
#1818 Patient Outcomes after Cardiac Surgery for Carcinoid Heart Disease Are Dependant Upon Successful Cytoreductive Multimodal Treatment and Control of Metastatic Neuroendocrine Disease
Introduction: Carcinoid Heart Disease (CHD) as a result of long standing carcinoid syndrome is associated with a poor prognosis due to development of valvular incompetence & right heart failure. Cardiac valve surgery is the main therapeutic option.
Conference: 14th Annual ENETS conference (2017)
Category: Surgical treatment
Presenting Author: John Knight
Authors: Jaber B, Ramsey E, Cowburn P, Tsang G, ...
#1899 Sequence of Therapy and Survival among Advanced Pancreatic Neuroendocrine Tumors (pNETs)
Introduction: Therapy for advanced pNETs involves surgery (SG) and non-SG options, including liver ablation (ABL), systemic therapy (ST), somatostatin analogues (SSA). Optimal initial therapy is unknown.
Conference: 14th Annual ENETS conference (2017)
Category: Epidemiology/Natural history/Prognosis - Descriptive epidemiology
Presenting Author: Erica Tsang
Authors: Tsang E, Speers C, Cheung W, Kennecke H, ...
#1207 A Novel MEN1 Gene Variant in a Sporadic Case of Multiple Endocrine Neoplasia Type 1
Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the occurrence of hyperparathyroidism, pituitary adenomas and duodeno-pancreatic neuroendocrine tumours (NETs). Germline mutations of the MEN1 gene are identified in up to 87% of MEN1 families and 82% of isolated MEN1 cases.
Conference: 12th Annual ENETS Conference (2015)
Category: Clinical cases/reports
Presenting Author: MD Donato Iacovazzo
#1854 VHL Genotype Is Associated with Pancreatic Neuroendocrine Tumors (PNETs) Phenotype in Patients with Von Hippel-Lindau Disease (VHLD)
Introduction: 8-20% of patients with VHLD develop PNETs. However, there are no markers for PNETs progression in VHLD patients. The type of mutation in VHL gene is associated with clinical phenotype of VHLD.
Conference: 14th Annual ENETS conference (2017)
Category: Epidemiology/Natural history/Prognosis - Prognosis
Presenting Author: MD Amit Tirosh
Keywords: VHL, mutation, prognosis
#2176 New MENIN Mutation Associated with Familial Isolated Hyperparathyroidism. Clinical Case of Three Young Sisters.
Introduction: The primary hyperparathyroidism (PHPT) is a sporadic disorder in the majority of cases, and only 5-10% of cases are associated with familial syndromes. The following familial syndromes associated with PHPT are known to date: multiple endocrine neoplasia type 1 (MEN1), type 2A (MEN2A), type 4 (MEN4), hyperparathyroidism-jaw tumor syndrome (HPT-JT), familial hypocalciuric hypercalcemia (FHH), neonatal severe hyperparathyroidism (NSHPT) and familial isolated hyperparathyroidism (FIHP). FIHP is defined as hereditary PHPT without the association with other diseases or tumors and may be caused by mutations in MEN1, HRPT2, or CASR genes.
Conference: 15th Annual ENETS conference (2018)
Category: Case reports
Presenting Author: Julia Krupinova
#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
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