The chromosome 18 loss of heterozygosity axis of small intestinal neuroendocrine tumors

#3392

Introduction: Small intestinal neuroendocrine tumors (siNETs) are rare neoplasms which have low mutational burdens: With subtypes characterised in terms of copy number variation (CNV). Subtypes are defined as: Chromosome 18 loss of heterozygosity (18LOH), multiple copy number variation (MultiCNV), or no copy number variations (NoCNV). 18LOH tumors are associated with improved outcomes, the reasons for which are poorly understood.

Aim(s): To carry out a multi-omic investigation of siNET subtypes integrating CNV, DNA methylation (DNAm) data, and gene expression profiles to understand improved outcomes in 18LOH tumors.

Materials and methods: DNAm (n=54) and matched gene expression (n=20) profiles were generated from siNET tumors. CNV was estimated from DNAm data. DNAm and gene expression differences were identified by linear models, differentially methylated regions (DMRs) with DMRcate, omic integration using SMITE and cell-count estimates with MethylCIBERSORT.

Conference:

Presenting Author: Waterfield S

Authors: Waterfield S, Yousefi P, Amaulu A, Relton C, Thirlwell C,

Keywords: neuroendocrine, small intestinal, methylation, epigenetics, omics,