Find in Library

Gastrointestinal stromal tumors (GISTs) harboring mutations in the <i>PDGFRA</i> gene occur in only about 5–7% of patients. The most common <i>PDGFRA</i> mutation is exon 18 D842V, which is correlated with specific clinico-pathological features compared to the other <i>PDGFRA</i> mutated GISTs. Herein, we present a miRNA expression profile comparison of <i>PDGFRA</i> D842V mutant GISTs and <i>PDGFRA</i> with mutations other than D842V (non-D842V). miRNA expression profiling was carried out on 10 patients using a TLDA miRNA array. Then, miRNA expression was followed by bioinformatic analysis aimed at evaluating differential expression, pathway enrichment, and miRNA-mRNA networks. We highlighted 24 differentially expressed miRNAs between D842V and non-D842V GIST patients. Pathway enrichment analysis showed that deregulated miRNAs targeted genes that are mainly involved in the immune response pathways. The miRNA-mRNA networks highlighted a signature of miRNAs/mRNA that could explain the indolent behavior of the D842V mutated GIST. The results highlighted a different miRNA fingerprint in <i>PDGFRA</i> D842V GISTs compared to non-D842Vmutated patients, which could explain the different biological behavior of this GIST subset.