A Study Of Genetic Mutation Of Primary Pulmonary Sarcoma And Pulmonary Sarcomatoid Carcinoma Basing On The Technology Of Next Generation Sequencing

Objective: Primary pulmonary sarcoma(PPS)is a malignant tumor as well as pulmonary sarcomatoid carcinoma(PSC).The histopathologic morphology of those two type of diseases is similar,but the origin of them is different from each other,also the therapeutic method is not same.In addition,the prognosis of the two diseases is poor,so the early diagnosis plays a significant role for developing the therapy.Next generation sequencing(NGS)is the technique that support high-throughput parallel sequence including whole genome,exome and transcriptome.Compared with traditional technique,it saves enormous economic and time cost,shows a giant advantage.NGS technique has already been used in various studies about tumors widely.In our study,we use NGS technique test PPS and PSC patients about tumor related genes to analyze the characteristics of mutant genes in two diseases and find mutant genes that can be used for differential diagnosis also as targets for targeted therapies in order to provide reference for the differential diagnosis of PPS and PSC,and provide the possibility for precise treatment.Method:Patients with PPS and PSC admitted by department of thoracic surgery,Bethune First Hospital of Jilin University were included.All of them were confirmed by the pathology from operation from June 2011 to June 2015.The patient's DNA of tumor tissue was extracted by QIAGEN QIAamp DNA Mini Kitt procedures.The gene was sequenced and analyzed through Ion Torrent PGM technology.High mutation rate gene and new mutation site were selected as potential targets for target therapy;then use Fisher test to compare the difference of gene mutation between PPS and PSC to gain the differential diagnosis genes.Result: A total of 8 patients with PPS and 9 patients with PSC were included in the study.After gene sequencing,75 mutations in 33 genes were detected in PPS.273 mutations in 29 genes were detected in PSC.TP53 and BRCA2 gene mutation were detected in more patients of PPS,we found totally 70 novel mutation sites in PPS.TP53,BRCA2,NF1 and FGFR4 gene mutation were detected in more patients of PSC,we found totally 229 novel mutation sites in PSC.We perform Fisher exact test to NF1 and FGFR4,which gens mutation detection case number difference is greater than or equal to 2 cases.The results showed no statistical significance.Conclusion: PPS and PSC have their own characteristics in gene mutation,which suggest that the technique of next generation gene sequencing may identify PPS and PSC at the gene level.Mutations in PPS and PSC with high numbers and novel mutations,may become targets for molecular targeted therapies of PPS and PSC.