Abstract
Simple SummaryAs for other neoplasms, liquid biopsy can be a useful tool to improve diagnosis and to monitor the response to therapy of high-grade serous epithelial ovarian cancer, which is the most common and lethal gynecological malignancy. In this paper, we provide an overview of the available knowledge on the current status and future opportunities by the analysis of tumor-derived components circulating in the blood of high-grade serous epithelial ovarian cancer patients.The lack of a sensitive and specific biomarker and the limits relating to the single primary tumor sampling make it difficult to monitor high-grade serous epithelial ovarian cancer (HGS-EOC) over time and to capture those alterations that are potentially useful in guiding clinical decisions. To overcome these issues, liquid biopsy has emerged as a very promising tool for HGS-EOC. The analysis of circulating tumor DNA appears to be feasible and studies assessing specific pathogenic mutations (i.e., TP53) or copy number alterations have shown a sufficient degree of sensitivity and specificity to be realistically used to monitor the effectiveness of antitumor therapy. Liquid biopsy can also provide potential important information on the mechanisms of sensitivity and resistance, e.g., by the determination of the reversion of BRCA mutations. Perspective studies are needed to test whether the application of liquid biopsy will significantly improve HGS-EOC management and patients’ survival.
Highlights
The possibility of developing a blood-based assay to survey the genomic landscape of human tumors and its dynamic evolution provides considerable clinical opportunities to optimize therapeutic regimens with the final aim of improving diagnosis and disease prognosis.Exploring the genetic composition of tumors has been the major aim in cancer research for the last 20 years
Lin and colleagues have analyzed 112 high-grade serous epithelial ovarian cancer (HGS-epithelial ovarian cancer (EOC)) patients with germline or somatic BRCA1\2 mutations enrolled in ARIEL2 trial (ClinicalTrials.gov Identifier: NCT01891344). cell-free DNA (cfDNA) derived from plasma samples collected before PARP inhibitors (PARPi) treatment and after disease progression was full-exons sequenced for BRCA genes to assess the presence of reverse BRCA mutations and evaluating their association with response to pt drugs and PARPi
The development of a sensitive, specific and non-invasive approach to answer important clinical questions in terms of early diagnosis, prognosis, therapy response and disease monitoring has risen up great hopes, in particular for those cancers characterized by marked heterogeneity, such as the HGS-EOC
Summary
The possibility of developing a blood-based assay to survey the genomic landscape of human tumors and its dynamic evolution provides considerable clinical opportunities to optimize therapeutic regimens with the final aim of improving diagnosis and disease prognosis. In a retrospective analysis of a small subset of EOC patients from whom matched synchronous and metachronous lesions, i.e., after chemotherapy treatment- were available, targeted re-sequencing analysis revealed that, almost 95% of somatic mutations were called as exclusive to each single lesion [10,11,12] With this lack of knowledge about how potential therapy-related markers with subclonal origin may change throughout tumor progression, serial sampling for real time genomic-profiling becomes mandatory to provide crucial information to guide treatment decision and/or monitor treatment response. Primary tumor biopsy remains the gold standard to identify tumor associated genomic alterations, it is a clinical need to identify novel methods, especially in metastatic settings, for real time monitoring of the evolution of potentially prognostic and predictive biomarkers
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