Genomic profiling of gynecologic cancers and implications for clinical practice.


This article summarizes the application of advances in next-generation sequencing (NGS) to personalizing treatment of gynecologic malignancies.


A number of studies applying NGS to tumor tissue from gynecologic malignancies have identified many recurrent genomic alterations (GA) which provide insights into the tumor’s biology, a specific diagnosis, prognosis, or potential targeted therapy options. NGS-based comprehensive genomic profiling of a patient’s personal tumor reveals to practitioners clinically relevant genomic alterations and associated biomarker-matched treatments, with a goal to improve therapeutic response while limiting cumulative chemotherapeutic toxicities. Although the precision medicine movement in gynecologic cancers holds much promise, the data detailing impact on survival and quality of life is still developing, lagging behind some other areas of oncology. Enrollment of gynecologic oncology patients in genotype-matched trials has remained challenging, highlighting the need for more molecular-based basket trials for reproductive tract malignancies.


Identification of molecular subsets with distinct prognostic significance within gynecologic cancers and targeted therapy directed against actionable mutations and is now feasible in clinical gynecologic oncology practice.

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