Comprehensive analysis of genomes and transcriptomes reveals the potential mechanism and targets of low-grade myofibroblastic sarcoma

Low-grade myofibroblastic sarcoma (LGMS) is a rare type of tumor, whose molecular mechanism has not been fully elucidated. In a progressive LGMS case, we found that apatinib significantly improved the patient'ss' quality of life and survival. MethodsWe extracted tumor tissue and matched adjacent normal tissues from an LGMS patients, which were subjectedwholesubjected to whole- exomen sequencing (WES) and RNA-sequence sequencing (RNA-seq). Annotating The genes were annotated for genomic and transcript mutations, displaying genes for transcriptional disorders mediated by genomic variation. Genomic alterations in cancer, including single-nucleotide variations (SNVs), copy number variations (CNVs) and differentially expressed genes (DEGs) were represented in Circos plots. Subsequently, functional enrichment analysis was applied to explore the Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways in LGMS, which affecting were affected by the DEGs.ResultsIn whole exon sequencingWES showed that, 256 genes may be related to SNVs,; at the same timesimultaneously, 269 genes may be related to CNVs. In addition, we identified 252 DEGs byin RNA-seq totally. The bBiological Pprocesses including involved “the regulation of extracellular structure organization” and “humoral immune response mediated by circulating immunoglobulin” weare enriched in the LGMS samples. KEGG pathwaypathways, including the phosphatidylinositol 3-kinase (PI3K) signaling pathway, the Neuroactiveneuroactive ligand-receptor interaction-signaling pathway, and the cAMP signaling pathway, were enriched in the LGMS samples. Finally, we exploreexplored the potential mechanism of apatinib into LGMS duringin the patient's treatment process.Conclusions We found that apatinib may inhibiteinhibit tumor growth and down regulatedownregulate the PI3K signaling pathway, which indicated that apatinib may be a novalnovel and potential drug for LGMS treatments.