Selective utilization of circulating tumor DNA testing enables disease monitoring in endometrial and ovarian carcinomas
- Author:
Amy JAMIESON
1
;
Melissa K. MCCONECHY
;
Amy LUM
;
Janine SENZ
;
Tanner DOWHY
;
David G. HUNTSMAN
;
Jessica N. MCALPINE
Author Information
- Publication Type:Original Article
- From:Journal of Gynecologic Oncology 2025;36(1):e5-
- CountryRepublic of Korea
- Language:English
-
Abstract:
Objective:Biomarkers reflecting real-time response to therapy and recurrence are lacking.We assessed the clinical value of detecting cell-free circulating tumor DNA (ctDNA) mutations in endometrial cancer (EC) and ovarian cancer (OC) patients.
Methods:EC/OC patients undergoing primary surgery were consented for tissue banking and 2-year serial blood draws. Tumor tissue DNA and plasma ctDNA underwent next generation sequencing using a targeted gene panel for somatic mutations.
Results:Of 44 patients (24 EC, 17 OC, 2 synchronous endometrial and ovarian carcinomas [SEOC] and 1 endocervical adenocarcinoma [EA]) at least one somatic mutation was identified in tumor tissue in 40 (91%, 20/24 EC, all OC/SEOC/EA), and in preoperative plasma ctDNA in 12 (27%) patients (6/24 [25%] EC and 6/17 [35%] OC). Detection of preoperative ctDNA mutations was associated with advanced stage, higher preoperative CA125, and subsequent disease recurrence. In 5/12 (42%) patients with preoperative ctDNA mutations, examination/imaging suggested clinical stage I however final pathology revealed stage II/III. In 11 patients where serial timepoints were assessed during treatment for ctDNA and CA125, ctDNA clearance preceded normalization of CA125. Thirteen patients developed recurrent disease (4 EC, 8 OC, 1 EA); 8 in whom ctDNA mutations were detected postoperatively, and 4 followed through time of recurrence with ctDNA mutations identified 2–5 months prior to clinical/radiologic/biomarker progression in 3.
Conclusion:ctDNA can reflect larger tumor volume/metastases, treatment response and subsequent disease recurrence in EC and OC. Careful patient selection is critical to direct resources to patients most likely to benefit, considering disease burden and risk group.
