Preliminary Study On Gene Mutation And Prognosis Of Malignant Pleural Mesotheliomathe

Part 1 Preliminary study on gene mutation and prognosis of malignant pleural mesotheliomatheBackground and objective Malignant pleural mesothelioma(MPM)is a kind of malignant tumor derived from pleural mesothelial cells,which is characterized by insidious onset,early diagnosis,rapid disease progression and poor prognosis.Up to now,due to the relative scarcity of the disease and the relative lack of research cases,the pathogenesis of the disease,especially in the molecular and genetic level,is relatively scarce.We believe that through the study of the MPM drive gene,we can get a better understanding of the disease.Previous studies revealed that in MPM patients there is a gene mutation phenomenon,including NF2,BAP1,CDKN2 A,P16,CUL1 etc.With the advent of the two generation sequencing technology,we can organize the specimens for further large-scale sequencing of the relevant genes,but also to obtain data on gene mutation abundance.In our study,we collected 18 cases of MPM biopsy and sequenced 56 genes associated with cancer with next gene sequencing technology.We also collected the relevant clinical data of the patients hoping to gain more in-depth understanding of the gene mutation and clinical characteristics.We expect to find more effective treatment of MPM through this study..Methods We collected 18 patients' data who were diagnosed as MPM from September 2009 to March 2016.All the 18 specimens were obtained by partial resection or CT guided puncture under the condition of no radiotherapy and chemotherapy.Then the pathological diagnosis was MPM.All the patients were followed up with 4-6 cycles of standard combination chemotherapy.There were no other major fatal diseases,and patients who had died of other causes were excluded.We analyzed the gender,age at the time of diagnosis,and the history of asbestos exposure and the clinical stage According to the imaging examination and so on.We made these 18 specimens into paraffin sections.After extraction and concentration determination of gene from these specims(the genes meet the standard of quality control),we used the technology of Burning Rock Langkang to make the gene sequencing of 56 related oncogenes.The items included gene name,mutation type,chromosome number,mutation abundance,etc.Results In this study,a total of 18 patients with malignant pleural mesothelioma were collected.Among them,11 were male,7 were women.The age of the patients was from 48 to 84 years old and the average age was(63.9 + 10)years old.15 patients had a definite history of exposure to asbestos exposure,and 3 cases had no history of exposure to asbestos exposure.Then according to Butchart staging method,18 patients were performed with clinical stages based on the imaging data(including chest,abdominal CT,cranial magnetic and bone scan),stage I patients with a total of6 people,a total of 9 cases of stage II and stage III patients with a total of 3 people,0patients with stage IV.We detected a total of 13 patients with mutations in genes,including TP53,FGFR2,IGF1 R,KRAS,FGFR3,SMAD4,APC,TSC2,ERBB2,RET,NTRK3,ERBB4,ARAF,NTRK1,ROS1,SMO1,NF1,BRCA1,FGFR3,NRAS.The types of mutation include missense mutations,copy number abnormalities,synonymous variant,stop gained,Frameshift variant.The 18 patients were followed up,and the survival of each patient was statistically analyzed.We found that the gene mutation group total survival time was lower than non mutation group(overal survival time were respectively 9 months and 18 months,p=0.04).In mutation group,it was also found that the overall survival rate of the TP53 mutation group was less than that of the wild group(median survival time were respectively4.5 months and 11.5 months,p=0.01)Conclusion Our study shows that there is a high mutation burden in MPM patients from East Asian populations,and some of the patients with TP53 gene mutation have poor response to treatment and poor prognosis.However,due to the limited number of cases,further date need to be collection and studied.Part 2 The diagnosis of pulmonary sequestration and its surgical treatments comparisonObjective To compare open and VATS surgical procedure for pulmonary sequestration.Methods We collected the clinical data of 18 patients with pulmonary sequestration who received surgical treatments from 2009 to 2016,including 7underwent thoracoscope surgery,and 11 underwent open surgery.Statistical analysis of the following indicators: the average age,hospitalization days,operation time,intraoperative blood loss,postoperative drainage time,postoperative drainage,postoperative complications,postoperative hospitalization time and total hospitalization expenses.Results Postoperative drainage and hospitalization time in VATS group are less compared to thoracotomy group,with statistical significance(T values were 4.553 and 5.068,respectively;P < 0.05).The average intraoperative blood loss in VATS group is less but total hospitalization cost is more compared to the thoracotomy group,without statistical significance(P > 0.05).The diagnosis is mainly based on chest imaging diagnosis,especially chest CT and three-dimensional reconstruction of the blood vessel imaging,which can found abnormal arterial,especially multi-shot spiral CT scan can significantly reduce the three-dimensional reconstruction of artifacts,the image closer to true,combined with the patient's previous history can be a preliminary diagnosis.Conclusion In comparison with traditional open surgery,VATS treatment has less postoperative drainage,surgical wound and hospitalization time.Our study proves that it is safe and reliable to treat pulmonary sequestration with VATS,which is worthy of being widely application.