Clinical analysis and literature review of a case of ovarian clear cell carcinoma with PIK3CA gene mutation: A case report

Rationale: Ovarian clear cell carcinoma (OCCC) is an uncommon malignant form of 5 subtypes of ovarian cancer, accounting for approximately 5% to 25% of all ovarian cancers. OCCC is usually diagnosed at a young age and an early stage. More than 50% of patients are associated with endometriosis. It shows less sensitivity to platinum-based chemotherapies, high recurrence, and poor prognosis, especially late. However, platinum-based chemotherapies remain the first-line treatment. Meanwhile, new treatment modalities have been explored, including immune checkpoint inhibitors and PI3K-AKT-mTOR pathway inhibitors. Patient concern: A 48-year-old Chinese woman, Gravida2 Para1, complained of irregular and painful vaginal bleeding for 4 months. Diagnosis: The patient was diagnosed with stage IC ovarian clear cell carcinoma that presented with a mutation of the phosphatidylinositol 4,5-bisphosphate 3-kinase alpha subunit (PIK3CA) gene. Intervention: We performed an early diagnosis and complete surgical resection of the tumor with platinum-based chemotherapy. Outcome: This patient with mutation of the PIK3CA gene was sensitive to platinum-based chemotherapy, showed a significant downwards trend in tumor markers, and was in good health within the year of follow-up. Lessons: This study described an OCCC case that presented with a PIK3CA mutation and was successfully managed with careful and complete resection of the tumor. This patient with mutation of the PIK3CA gene was sensitive to platinum-based chemotherapy, showed a significant downwards trend in tumor markers, and did not have recurrence after a year of follow-up, indicating a reasonably good prognosis. Therefore, surgery plus platinum drug chemotherapy is still the best strategy for OCCC treatment. In addition, it is recommended for such patients to undergo genetic testing as much as possible to predict the clinical treatment effect.

Automated summary

This study presented a case of OCCC with a PIK3CA mutation, which was successfully managed through careful and complete tumor resection followed by platinum-based chemotherapy. The patient with the PIK3CA gene mutation showed sensitivity to platinum-based chemotherapy, significant decrease in tumor markers, and no recurrence within a year of follow-up, indicating a reasonably good prognosis. Surgery plus platinum-based chemotherapy remains the recommended strategy for OCCC treatment, and genetic testing is advised for predicting the treatment effect.