To evaluate ovarian clear cell carcinoma (OCCC) and endometrial clear cell carcinoma (ECCC) using multiplatform profiling technology and compare their molecular profiles to clear cell renal cell carcinoma (ccRCC).
- Ovarian clear cell carcinoma is rare, accounting for approximately 5-25% of epithelial ovarian cancers (EOC) with a higher prevalence in Asian women (1).
- These tumors are high-grade, and women with advanced stage disease have a poorer prognosis than those with high grade serous EOC (2). Advanced clear cell gynecologic malignancies remain amongst the most challenging diseases to manage.
- OCCCs have a high frequency of common genetic mutations including ARID1A and PIK3CA and higher expression of HNF1β compared to high grade serous EOC.
- OCCCs have similar gene expression profiles compared to endometrial and renal CCCs (3).
- Molecular profiling of clear cell ovarian cancer may help to identify new targeted therapy as well as predictive biomarkers.
- OCCC, ECCC, and ccRCC tumor samples were evaluated from 2015 to 2018 by Caris Life Science for multiplatform analysis (Caris Life Science, Phoenix, AZ).
- Mutation analysis was performed using fragment analysis (FA), gene amplification with chromogenic in situ hybridization (CISH), and/or next-generation sequencing (NGS) with the NextSeq platform (Illumina, Inc., San Diego, CA).
- Chi-square testes were used to determine molecular differences between subtypes.
- OCCC and ECCC are similar diseases requiring novel approaches to treatment.
- rcCCC, although pathologically similar, has differential mutation expression patterns than OCCC and ECCC.
- rcCCC and OCCC/ECCC have common mutations in APC and PTEN.
- Prospective clinical trials are needed to examine targeted therapies as well as checkpoint inhibition in these gynecologic disease subtypes.