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Published on: January 12, 2020
Comprehensive genomic profiling (CGP) of ovarian clear cell carcinomas (OCCC) identifies clinically relevant genomic
Julia A Elvin1, Justin Chura2, Laurie M Gay1
1Foundation Medicine, Inc., Cambridge, MA, United States.
Abstract:
•MTOR pathway genes are often mutated in ovarian clear cell carcinomas (OCCC).•11.2% of OCCC have targetable alterations only in the mTOR pathway.•MTOR pathway mutations in OCCC can underlie robust, lasting responses to everolimus.
Insights
Mutations in the mTOR pathway are common in ovarian clear cell carcinomas (OCCC). Targeting these specific mTOR pathway alterations with everolimus can lead to significant and durable patient responses.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Ovarian clear cell carcinoma (OCCC) is an aggressive gynecologic malignancy.
- The mechanistic target of rapamycin (mTOR) pathway plays a critical role in cell growth and proliferation.
- Genetic alterations in the mTOR pathway are frequently observed in various cancers.
Observation:
- A significant subset of OCCC cases harbor mutations exclusively within the mTOR pathway.
- These targetable alterations represent a specific vulnerability in OCCC.
Findings:
- Approximately 11.2% of OCCC exhibit targetable genetic alterations solely within the mTOR pathway.
- Mutations in the mTOR pathway are associated with potent and sustained responses to the drug everolimus.
Implications:
- This highlights the therapeutic potential of mTOR inhibitors in OCCC.
- Identifying mTOR pathway alterations can guide personalized treatment strategies for OCCC patients.
- Further investigation into mTOR-targeted therapies is warranted for this disease.
