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Qianying Zhao,Jiaxin Yang,Lei Li,Dongyan Cao,Meiyun Ke,Keng Shen,BGI Group 대한부인종양학회 2017 Journal of Gynecologic Oncology Vol.28 No.4
Objective: To define genetic profiling of homologous recombination (HR) deficiency inChinese ovarian cancer patients. Methods: We have applied next-generation sequencing to detect deleterious mutationsthrough all exons in 31 core HR genes. Paired whole blood and frozen tumor samples from50 Chinese women diagnosed with epithelial ovarian carcinomas were tested to identify bothgermline and somatic variants. Results: Deleterious germline HR-mutations were identified in 36% of the ovarian cancerpatients. Another 5 patients had only somatic mutations. BRCA2 was most frequentlymutated. Three out of the 5 somatic mutations were in RAD genes and a wider distributionof other HR genes was involved in non-serous carcinomas. BRCA1/2-mutation carriers hadfavorable platinum sensitivity (relative risk, 1.57, p<0.05), resulting in a 100% remissionprobability and survival rate. In contrast, mutations in other HR genes predicted poorprognosis. However, multivariate analysis demonstrated that platinum sensitivity andoptimal cytoreduction were the independent impact factors influencing survival (hazardsratio, 0.053) and relapse (hazards ratio, 0.247), respectively. Conclusion: Our results suggest that a more comprehensive profiling of HR defect thanmerely BRCA1/2 could help elucidate tumor heterogeneity and lead to better stratification ofovarian cancer patients for individualized clinical management.
Qianying Zhao,Jiaxin Yang,Dongyan Cao,Jiangna Han,Kaifeng Xu,Yongjian Liu,Keng Shen 대한부인종양학회 2016 Journal of Gynecologic Oncology Vol.27 No.3
Objective: To explore the appropriate treatment of malignant germ cell tumor (MGCT) in thefemale genital system, and to analyze the factors influencing both therapeutic response andsurvival outcome. Methods: A cohort of 230-Chinese women diagnosed with MGCT of the genital systemwas retrospectively reviewed and prospectively followed. The demographic and pathologicalfeatures, extent of disease and surgery, treatment efficiency, recurrence and survival wereanalyzed. Results: MGCTs from different genital origins shared a similar therapeutic strategy andresponse, except that all eight vaginal cases were infantile yolk sac tumors. The patients’ curerate following the initial treatment, 5-year overall survival and disease-free survival (DFS)were 85.02%, 95.00%, and 86.00%, respectively. Although more extensive excision couldenhance the remission rate; it did not improve the patients’ survival. Instead, the level of themedical institution, extent of surgery and disease were independent prognostic factors forrelapse (p<0.05). Approximately 20% of patients had recurrent or refractory disease, morethan half of whom were in remission following secondary cytoreductive surgery with salvagechemotherapy. Conclusion: Fertility-sparing surgery with or without standardized PEB/PVB (cisplatin,etoposide/vincristine, and bleomycin) chemotherapy is applicable for female MGCTsof different origins. Comprehensive staging is not required; nor is excessive debulkingsuggested. Appropriate cytoreduction by surgery and antineoplastic medicine at anexperienced medical institution can bring about an excellent prognosis for these patients.