Abstract library

4 results for "Delgado Verdugo*".
#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
#2803 Chromogranin A as a Tumoral Marker for Neuroendocrine Tumors in Chilean Patients: A Case-Control Study
Introduction: Neuroendocrine tumors (NETs) are highly heterogeneous, serum chromogranin A (CgA) has a 60-100% of sensitivity and 68-100% of specificity with a cutoff value of 108 ng/mL as a marker for diagnosis of NETs.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Biomarkers
Presenting Author: Matias Munoz Medel
#2808 Clinical Features and Quality of Life in Patients with Gastroenteropancreatic Neuroendocrine Tumors from Chile
Introduction: Clinical features of Gastroenteropancreatic Neuroendocrine Tumors (GEP-NETs) and their repercussions on health-related quality of life (HRQoL) have not been widely studied in Hispanic populations.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Epidemiology/Natural history/Prognosis - Registries, nationwide and regional surveys
Presenting Author: MD Diego Carrillo