PDGFRA Gene Mutation And Its Clinicopathological Factors In Osteosarcoma

[Objective]Many studies have confirmed that the occurrence and development of tumors are often related to the mutations of some related genes.In recent years,gene detection technology has been applied to the treatment of tumor patients.This study is through the detection of 30 cases of osteosarcoma tissues and 10 cases of osteochondroma tissues PDGFRA gene mutations,and combined with the clinical analysis of all kinds of patients with osteosarcoma PDGFRA gene mutations of the relationship between clinical and pathological factors,in order to find help to accurately assess and improve the prognosis of patients with osteosarcoma gene targets,for the treatment and prognosis of osteosarcoma assessment to explore a new way[Methods]1.DNA was extracted from 30 samples of osteosarcoma tissues and 10 samples of osteochondroma tissues collected from January 2010 to June 2018 in the bone tumor center of shenzhen second people's hospital using the corresponding kit and in accordance with its standardized operating procedures2.Based on Ion Ampliseq Library Kits 2.0 standardized operation scheme,DNA libraries were constructed and purified3.Prepared and enriched the sequencing template according to the standardized technical process of Life Technology Cancer Panel,and then sequenced it on Ion Torrent platform4.Analysis of sequencing data results,using the chi-square Fisher's exact probability analysis method to explore PDGFRA gene mutation of patients with osteosarcoma of age,sex,tumor site,clinical stage,pathological type and pathological fracture,alkaline phosphatase levels,lung metastasis,recurrence and survival factors such as,the relationship between the Kaplan-Meier and log-rank test analysis PDGFRA gene mutation and the relationship between the overall survival for five years[Results]1.PDGFRA gene mutation was detected in 22 of the 30 samples of osteosarcoma,and the total mutation rate of PDGFRA gene was 73.3%.2.PDGFRA gene mutation was not detected in 10 osteochondroma tissue samples.3.There were 2 PDGFRA gene mutation loci detected in 30 osteosarcoma tissue samples,respectively on chromosome 4,55141050,and chromosome 4,55152040,with mutation rates of 33.3%and 40%,respectively.Among them,the gene mutation at position 55141050 on chromosome 4 is deletion but does not lead to frame-shift mutation,and the gene mutation at position 55152040 on chromosome 4 is synonymous mutation.4.The mutation rate of PDGFRA gene locus 55141050 on chromosome 4 was 10%in patients without recurrence.The mutation rate was 23.3%in patients with recurrence.Recurrence in patients with osteosarcoma PDGFRA gene on chromosome 4 55141050th locus mutation rate is significantly higher than patients without recurrence,statistically significant difference(P = 0.045,<0.05),but PDGFRA gene on chromosome 4 55141050 loci in osteosarcoma patients'age,sex,tumor site,pathological fracture,clinical stage,lung metastasis,alkaline phosphatase level,and pathological type of mutation rate had no statistical difference(P>0.05).The mutation rate of PDGFRA gene at 55141050 on chromosome 4 was 13.33%in the surviving patients.The mutation rate in death was 20%.The proportion of PDGFRA gene mutation at 55141050 on chromosome 4 of the dead patients was significantly higher than that of the survived patients,and the difference was statistically significant(P =0.007,<0.05).[Conclusion]PDGFRA gene mutation rate is higher in osteosarcoma tissues,PDGFRA gene on chromosome 4 mutation rate of 55141050 patients with osteosarcoma recurrence was obviously higher than that of patients without recurrence,and the mutation in the mutation ratio significantly higher than the survival of patients with dying patients,with the mutation of 5 years of overall survival in patients with significantly lower than patients without the mutation,reveals the PDGFRA gene on chromosome 455141050th locus mutation may be a sign of poor prognosis in patients with osteosarcoma.PDGFRA gene locus 55141050 on chromosome 4 May be a potential target for gene therapy and targeted therapy for osteosarcoma,and may be a marker for evaluating the survival and prognosis of patients with osteosarcoma.