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Updated: Jun 23, 2026
Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
Earlier Comprehensive Cancer Genomic Profiling in Gynecologic Cancers May Facilitate Genotype-Matched Therapy: A
Kazusa Nofuji1, Tasuku Mariya1,2, Tomohiro Kubo3
1Department of Obstetrics and Gynecology, Sapporo Medical University School of Medicine, Sapporo, Japan, sapmed.ac.jp.
Background And Aims:
Personalized medicine utilizing comprehensive cancer genomic profiling (CGP) for gynecologic cancers is still in its early stages and faces numerous challenges. In this study, we aimed to elucidate the current status of CGP for gynecologic cancers at our institution.
Methods:
We prospectively analyzed 44 cases of gynecologic cancers that underwent CGP (FoundationOne CDx or Liquid CDx) from March 2020 to July 2022, evaluating the CGP results and clinical outcomes.
Results:
Forty-one cases underwent FoundationOne CDx and four underwent FoundationOne Liquid CDx testing. The distribution of cancer types consisted of 10 cases of cervical cancer, 21 cases of ovarian cancer, 7 cases of endometrial cancer, and 6 cases of sarcomas. Actionable genomic alterations were identified in 42 cases (95.5%), with 16 cases (36.4%) presenting clinically for genotype-matched therapy (GMT). However, GMT was administered in only three cases (6.8%). Among the cases without GMT, four experienced a deterioration in overall physical condition and two had complications as the reason for nonimplementation. Consideration of presumed germline pathogenic variants occurred in 10 cases (22.2%), with confirmatory testing conducted in two. In survival analysis using the Cox proportional hazards model, the presence of PIK3CA mutations was identified as being potentially associated with adverse prognosis (hazard ratio: 2.73, 95% confidence interval: 1.15-6.49, and p = 0.023).
Conclusion:
To enhance the prognosis of gynecologic cases, earlier CGP testing to expand the opportunities for GMT and the proactive introduction of PIK3CA-related clinical trials might be crucial.