Title : The somatic mutation of PI3KCA and PTEN was associated with poor prognosis of stage-I clear cell ovarian carcinomas
Abstract:
Background: Ovarian clear cell carcinoma (OCCC) is a less common subtype of epithelial ovarian cancers. It is a challenge for clinical treatment of OCCC due to the resistance to chemotherapy. In this study, we revealed the molecular landscape of ovarian clear cell carcinoma and assess the role of different mutations in prognosis.
Methods: This study retrospectively analysed OCCC patients who were seen from 2008 to 2018. The clinicopathological characteristics of OCCC patients were obtained from electronic medical records. Next-generation sequencing (NGS) was performed to identified the somatic mutations of PI3KCA and PTEN. The relationship between PI3KCA and PTEN mutation and survival outcomes was estimated by Cox proportional hazard models. Then the Kaplan-Meier curve was used to estimate overall survival (OS) and progression-free survival (PFS), log-rank test was used to test the difference in survival.
Results: A total of 38 patients were included in the study, The mean age of the patients was 40.8(±9.28) years, and the median follow-up time was 48 months (range, 8–54). All patients had received initial surgical treatment and 20 patients (53%) received postoperative adjuvant chemotherapy. The genes with the highest mutation frequencies were PI3KCA (63%) and PTEN (42%), 18 patients (47%) had mutations in both PI3KCA and PTEN. Patients with mutations of PI3KCA and PTEN had a higher recurrence rate compared to those without mutations. Then we conducted subgroup analysis of stage I OCCC patients, the results showed that the mutations of PI3KCA and PTEN were associated with poor PFS (media PFS 13.2 months, p= 0.045) and OS (media OS 55.7 months, p= 0.032).
Conclusion: The stduy suggest that the presence of PI3KCA and PTEN mutations may have potential value for predicting the prognosis of OCCC. For stage I clear cell ovarian carcinomas patients, it is especially necessary to take NGS test in early stages of the disease, which can helpful in taking interventions and improving the prognosis of patients.
Keywords: Ovarian clear cell carcinoma, PI3KCA, PTEN, somatic mutation.
