Abstract Library

#2982 Comprehensive Molecular Analysis Identifies Driver Mutations in Metastases of Sporadic Well-Differentiated Neuroendocrine Tumours of the Small Intestine

Introduction: Small intestinal neuroendocrine tumours (SI-NETs) represent a heterogenous group of tumours. The molecular mechanisms which contribute to progression of SI-NETs are poorly elucidated. They are considered to be molecularly distinct from neuroendocrine carcinomas (NECs), which share oncogenic pathways with adenocarcinomas.

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author: Samsom K

Authors: Samsom K, van Veenendaal L, Roepman P, Kodach L, Steeghs N,

Keywords: whole genome sequencing, neuroendocrine tumour, small intestine, genetics,

#2162 Single Cell Copy Number Variation Analysis (CNV) of Circulating Tumor Cells (CTCs) in Neuroendocrine Tumor (NET) Patients

Introduction: The identification and characterization of CTCs as part of a minimally invasive “liquid biopsy” provides an opportunity to explore NET biology, identify therapeutic targets and investigate tumour heterogeneity.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author: Childs A

Authors: Childs A, Vesely C, Rizzo F, Ensell L, Lowe H,

Keywords: CTCs, tumor heterogeneity, CNV,

#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:

Presenting Author:

Authors: Crona* J, Delgado Verdugo* A, Hellman P, Björklund P,

Keywords: next generation sequencing, pheochromocytoma,