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Background: Today, in the era of precision medicine, the determination of genomic instability or other potentially targetable mutations, along with BRCA 1 and BRCA 2, is a crucial component of the diagnosis and treatment management of locally advanced or metastatic ovarian cancer. Advanced technologies such as next-generation sequencing (NGS) have enabled comprehensive genomic profiling (CGP) analysis to become more feasible for routine use in daily clinical work. Here, we present the results from the first two years of the CGP analysis of patients with locally advanced or metastatic ovarian cancer on a national level, aiming to establish its position in the daily clinical practice of treating ovarian cancer. Methods: We performed a multicentre, retrospective, cross-sectional analysis of the total population of Croatian patients who were either newly diagnosed with locally advanced or metastatic ovarian cancer, whose initial disease had progressed from January 1, 2020, to December 1, 2021, and whose tumours underwent CGP analysis. The primary endpoint was to present and compare the proportion of patients carrying a BRCA 1 or BRCA 2 mutation with the proportion of patients with a homologous recombination deficiency (HRD) or loss of heterozygosity (LOH), for which targeted therapy with PARP inhibitors is chosen. Results: All 86 patients (100%) analysed with CGP had at least one genomic alteration (GA). The median LOH was 14.6 (Interquartile range ; IQR 6.8-21.7), with 35 (41%) patients having a LOH 16. We found a BRCA-positive status in 22 (26%) patients. Conventional testing using single-target assays, which detects only BRCA mutations, would have opted for targeted therapy with PARP inhibitors in 22 (26%) patients among our group of tested patients. Meanwhile, CGP revealed the need for targeted therapy with PARP inhibitors in 35 patients (41%). Conclusions: The results have identified clinically significant higher number of women who would achieve a possible benefit from targeted therapy. Hence, we believe that CGP should be integrated into the diagnostic workup of patients with locally advanced and metastatic ovarian cancer as a backbone diagnostic tool. |
