Ovarian cancer diagnostics shift toward longitudinal liquid biopsy and AI integration
The study reports that comprehensive molecular profiling has become a clinical necessity for prognostic stratification and targeted therapy selection in ovarian cancer. Investigators review the clinical validity and practical implementation of tissue-based comprehensive genomic profiling and homologous recombination deficiency testing, while highlighting emerging liquid biopsy applications for tracking minimal residual disease and acquired resistance. The authors advocate for a diagnostic paradigm shift from static tissue analysis to dynamic, longitudinal blood-based monitoring integrated with multi-omic and artificial intelligence tools. This review provides laboratory directors with a structured overview of current genomic platforms and future directions for real-time tumor monitoring.
The original study
Genomic profiling as an option for ovarian cancer diagnostics.
- Authors
- De Paolis E, Raspaglio G, De Donato M, Tulli E, Mattei I, Minucci A
- Journal
- Expert review of molecular diagnostics
- Type
- Journal Article, Review
- PMID
- 42422928
Original abstract
INTRODUCTION: Ovarian cancer (OC) is a highly heterogeneous and lethal gynecological malignancy. Precision oncology has shifted the management paradigm to comprehensive molecular profiling. Genomic-based diagnostics are now a clinical necessity for accurate prognostic stratification and the rational selection of targeted therapeutics, such as PARP and immune checkpoint inhibitors. AREAS COVERED: This review evaluates current literature regarding the distinct genomic landscapes defining OC histotypes to underlined the role of molecular profiling in the diagnostic field of OC. We discuss the practical implementation, technical aspect, and clinical validity of the main molecular diagnostic platforms, focusing on tissue-based Comprehensive Genomic Profiling (CGP) and Homologous Recombination Deficiency (HRD). Furthermore, we explore emerging translational data on liquid biopsy (LBx) applications. EXPERT OPINION: While current tissue-based methodologies provide critical baseline data, the OC diagnostic paradigm must pivot from static testing to proactive and longitudinal tracking. Integrating advanced LBx approaches enables a real-time monitoring of dynamic parameters as minimal residual disease (MRD) and acquired resistance. Integrating these dynamic blood-based assays with multi-omic profiling and artificial intelligence (AI)-driven tools allows a full understanding of the complex tumor behavior.