Oncogene Detection Of Primary And Recurrent Soft Tissue Sarcomas And Its Clinical Significance

Objective: To explore the role of gene mutation in the development of soft tissue sarcomas and therelationship between gene mutations and clinically relavent parameters, we detect238known mutationsof19common oncogenes in primary and recurrent soft tissue sarcoma.Methods:(1)Using OncoCarta panel v1.0based on matrix-assisted laser desorption ionization time offlight mass technique (MALDI-TOF-MS) platform to detect238oncogenes mutation of19commononcogenes in FFPE primary soft tissue sarcomas and pairwise comparison recurrent sarcomas;(2)Screen the reports of gene mutation and compare them with no mutation control using Typer4.0software;(3) Data statistical analysis was performed by SPSS17.0.Results:(1) The results of gene mutation detection in soft tissue sarcoma:3of16primary samplesharbored point mutations, and4out of9recurrent samples harbored point mutations, the mutation geneinvolved in FGFR1, FGFR3, KIT, PIK3CA, ABL, KRAS and RET;(2) The results of gene mutationdetection in different histological types:1) Four cases harbored mutations in19liposarcomas, includingtwo cases in dedifferentiated liposarcoma (FGFR3, FGFR1and KIT), and two cases in myxoidliposarcoma(KIT, PIK3CA);2)2cases of recurrent inflammatory myofibroblastic tumors harbored KITand PIK3CA gene mutations respectively, however there were no any mutations in the recurrentsamples;3) one case of recurrent undifferentiated pleomorphic sarcoma harbored co-occurredmutations of ABL, KRAS, PIK3CA and RET, and its primary sample had no any mutations;(4)Statistical analysis showed the group of age more than40year-old had higher mutation rate thanyounger group (P＜0.05); and Grade3group had higher mutation rate than Grade1-2in primarysamples (P＜0.05); survival analysis showed the patient harboring FGFR1/3mutation had shortermedian survival time than ones having no mutation.Conclusion:(1)The myxoid liposarcoma had PIK3CA gene mutation; detected FGFR1/3mutation indedifferentiated liposarcoma at first time and the mutaton may be associated with poor prognosis ofdedifferentiated liposarcoma;(2) We detected KIT and PIK3CA gene mutations in recurrentinflammatory myofibroblastic tumor at first time, and these mutations may be associated with therecurrence.