Chromosomal instability and deregulated cell cycle pathways are associated with increased metastatic capacity in treatment naïve, localized, high-risk gastrointestinal stromal tumours

The aim of the GIST Risk study was to identify genomic and transcriptomic profiles that could be associated with disease relapse and thus a more aggressive tumour phenotype. The cohort consisted of 21 patients with primary, untreated, resectable, high-risk GIST divided into two groups; patients who developed metastatic disease within three years and patients without disease relapse for more than five years follow-up after adjuvant imatinib treatment. We performed miRNA transcriptome profiling of 21 untreated, resectable, high-risk GIST with different capacity to metastasize. Data was egnerated using the nanoString Human V3 miRNA assay and normalisation and differentially expressed gene analysis were performed using NanostringDiff R package.