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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.

Aim(s): To perform a comprehensive genetic characterization of metastatic SI-NETs.

Materials and methods: Whole genome sequencing (WGS) of 35 and next generation sequencing (NGS) of 8 metastasized SI-NET was performed. Biopsies were taken between 2016 and 2019. Tumours were classified using the latest WHO classification (2018). WGS included assessment of somatic mutations in all cancer related driver genes, tumour mutational burden (TMB) and microsatellite status. NGS entailed a diagnostic cancer hotspot mutation panel of 58 genes. Our cohort consisted of 21% G1, 65% G2 and 14% G3 well-differentiated metastasized SI-NETs.

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,

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