Circulating Tumor DNA in Ovarian Cancer: Emerging Roles in Early Detection, Risk Stratification, and Disease Monitoring

Early diagnosis of ovarian cancer remains one of the most important unmet needs in gynecologic oncology because survival is strongly stage-dependent and most patients still present with disseminated disease. Conventional non-invasive tools, particularly CA-125, transvaginal ultrasound, and composite triage algorithms, remain clinically useful but are limited by suboptimal sensitivity for stage I disease and by reduced specificity in premenopausal women and in benign inflammatory or endometriosis-associated conditions. Circulating tumor DNA (ctDNA) has therefore emerged as a candidate biomarker capable of extending liquid biopsy beyond conventional serology. In ovarian cancer, however, ctDNA implementation is constrained by low tumor shedding in early-stage disease, marked biologic heterogeneity across histotypes, clonal hematopoiesis-related background noise, and major pre-analytical and analytical sources of variability. This narrative review, informed by structured searches of PubMed, Scopus, and Web of Science, examines the evolving evidence for ctDNA mutations, methylation-based assays, multi-omic platforms, and machine-learning models across three distinct clinical contexts: population screening, preoperative triage of adnexal masses, and post-treatment assessment of molecular residual disease. We also discuss positive predictive value, false-positive harms, health-economic implications, standardization initiatives, and ongoing prospective studies. Overall, current evidence suggests that the most plausible near-term role for liquid biopsy in ovarian cancer is not as a universal stand-alone screening test, but as an integrated component of risk stratification and disease-monitoring frameworks that combine molecular signals with clinicopathologic and imaging data.

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Publication Details

Journal
Cancers
Published
2026-04-21
DOI
https://doi.org/10.3390/cancers18081312
Primary Topic
Cancer Genomics and Diagnostics
Type
article
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article

Circulating Tumor DNA in Ovarian Cancer: Emerging Roles in Early Detection, Risk Stratification, and Disease Monitoring

Vincenzo Cianci, Giuseppe Giuffrè, Valeria Zuccalà, Maurizio Martini et al.
Cancers
Cancer Genomics and Diagnostics
article

Circulating Tumor DNA in Ovarian Cancer: Emerging Roles in Early Detection, Risk Stratification, and Disease Monitoring

Vincenzo Cianci, Giuseppe Giuffrè, Valeria Zuccalà, Maurizio Martini, Antonio Ieni, Vincenzo Fiorentino, Stefano Cianci, Ludovica Pepe, Walter Giuseppe Giordano, M Berretta, Cristina Mondello
article en

Abstract

Early diagnosis of ovarian cancer remains one of the most important unmet needs in gynecologic oncology because survival is strongly stage-dependent and most patients still present with disseminated disease. Conventional non-invasive tools, particularly CA-125, transvaginal ultrasound, and composite triage algorithms, remain clinically useful but are limited by suboptimal sensitivity for stage I disease and by reduced specificity in premenopausal women and in benign inflammatory or endometriosis-associated conditions. Circulating tumor DNA (ctDNA) has therefore emerged as a candidate biomarker capable of extending liquid biopsy beyond conventional serology. In ovarian cancer, however, ctDNA implementation is constrained by low tumor shedding in early-stage disease, marked biologic heterogeneity across histotypes, clonal hematopoiesis-related background noise, and major pre-analytical and analytical sources of variability. This narrative review, informed by structured searches of PubMed, Scopus, and Web of Science, examines the evolving evidence for ctDNA mutations, methylation-based assays, multi-omic platforms, and machine-learning models across three distinct clinical contexts: population screening, preoperative triage of adnexal masses, and post-treatment assessment of molecular residual disease. We also discuss positive predictive value, false-positive harms, health-economic implications, standardization initiatives, and ongoing prospective studies. Overall, current evidence suggests that the most plausible near-term role for liquid biopsy in ovarian cancer is not as a universal stand-alone screening test, but as an integrated component of risk stratification and disease-monitoring frameworks that combine molecular signals with clinicopathologic and imaging data.

CancersVol. 18(8)
University of Messina (IT)
Good health and well-being
Openalex Percentile: Top 14%
Cancer Genomics and Diagnostics
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