Targeted Next Generation Sequencing in the Screening for Familial Neuroendocrine Tumor Syndromes: A Tool for Personalized Medicine Abstract #861

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.
Aim(s):
Materials and methods: DNA from 150 patients with NET, including 35 with familial NET syndrome, were analysed. Samples were subjected to targeted enrichment (two kits, 30 genes) and sequenced on a Illumina MiSEQ instrument. Results were processed with Illumina MiSEQ Reporter and CLC Genomics software and validated by Sanger sequencing.
Conference: 11th Annual ENETS Conference (2014)
Category: Biomarkers
Presenting Author: Joakim Crona

To read results and conclusion, please login ...

Further abstracts you may be interested in

#434 Treatment, Survival and Prognostic Markers in Patients with Thymic Carcinoids: A Clinicopathologic Study of 28 Cases
Introduction: Thymic carcinoids are uncommon but malignant tumors, usually associated with a poor prognosis. The number of cases reported is limited to a few hundred and there are few prognostic factors available.
Conference: 9th Annual ENETS Conference (2012)
Category: Clinical
Presenting Author: Joakim Crona
#503 Long-Term Stable Disease with Everolimus in a Patient with Advanced Pancreatic Neuroendocrine Tumor Enrolled in RADIANT-1
Introduction: The phase II open-label RADIANT-1 study evaluated the safety and efficacy of Everolimus (E, 10 mg/d) ± octreotide LAR (O) in patients (pts) with advanced pancreatic neuroendocrine tumors (pNET) after chemotherapy failure. Objective tumor response was 9.6% in the E group and 4.4% in the E+O group (all partial), and stable disease (SD) was 68% and 80%.
Conference: 9th Annual ENETS Conference (2012)
Category: Clinical
Presenting Author: Jenny Falkerby
#906 Secondary Hormonal Syndromes in Patients with Sporadic Neuroendocrine Tumors
Introduction: Neuroendocrine tumors (NETs) are characterized by secretion of peptide hormones that may cause distinct syndromes. Although most patients with hormonal secretion are diagnosed upon primary diagnosis, a significant proportion of pancreatic NET patients develop secondary hormonal production later on in the disease.
Conference: 11th Annual ENETS Conference (2014)
Category: Epidemiology/Natural history/Prognosis - Descriptive epidemiology
Presenting Author: Joakim Crona
Authors: Crona J, Eriksson B, Welin S, ...
#1523 Multiregion Analysis Reveal Evolutionary Patterns and a Chromosomal Instability Signature in Pancreatic Neuroendocrine Tumours
Introduction: Pancreatic neuroendocrine tumors (PNETs) are potentially lethal diseases that show variable degrees of proliferation and invasiveness. Although genetic subgroups have been suggested to give prognostic information the impact of clonal evolution to the development and outcome of PNETs remains unexplored.
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Joakim Crona
#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
Close
Notice

WARNING – FRAUDULENT WEBSITES

ENETS is aware that its members have been confronted with fake websites, which seem to relate to our congress but have not been commissioned or authorised by us. The websites offer fraudulent hotel reservation services. We therefore strongly recommend that you please only use the official enetsconference.org website when booking your tickets and accommodation. Please be vigilant when it comes to providing your credit card details. 

If you have any questions, please do not hesitate to contact us at info@enets.org.