Improved assessment of gene rearrangements by targeting non-coding DNA regions in patients diagnosed with pancreatic neuroendocrine neoplasms

#4583

Introduction: Whole-genome sequencing projects documented the heterogeneity of pancreatic neuroendocrine neoplasms (PanNEN), while showing that few core pathways are consistently affected in their tumorigenesis. Comprehensive genomic profiling (CGP) of real-world cases is expected to recapitulate such heterogeneity for patient stratification and to inform precision therapy. While coding DNA is the focus of current CGP panels, the potential of targeting non-coding DNA (ncDNA) to improve structural variants detection has not been widely explored in this context.

Aim(s): To test the performance of a CGP panel targeting both coding DNA and selected ncDNA regions in reporting structural variations of PanNEN.

Materials and methods: A retrospective monocentric cohort of patients diagnosed with PanNEN was profiled using a CGP panel targeting coding sequence of 174 genes, additional ncDNA for 22 of 174 genes, and a functional copy number resolution of 1Mb in the genome-wide backbone to detect large CNV events.

Conference:

Presenting Author: Agnoletto C

Authors: Agnoletto C, Trevisani E, Borghesani M, Landoni L, Luchini C,

Keywords: neuroendocrine, non-coding DNAs, structural variants, clinical relevance, CGP panel,