Aim: In ovarian cancer, methylated HOXA9 (meth-HOXA9) has been proposed as a relevant biomarker, however, its role in the carcinogenic development remains unknown. This study aimed at evaluating meth-HOXA9 as a diagnostic biomarker in ovarian cancer. Materials & methods: The meth-HOXA9 status was examined in 138 tissue specimens encompassing normal ovaries, benign- and borderline tumors, and ovarian cancer using droplet digital PCR. Results: Meth-HOXA9 was detected in 93% (82/88) and 88% (14/16) of ovarian cancer and borderline tumors, respectively. In patients with benign ovarian tumors meth-HOXA9 was detected in 17% (3/18). Using receiver operating characteristic (ROC) analysis meth-HOXA9 had a diagnostic accuracy of 98%. Conclusion: Meth-HOXA9 is highly cancer specific and could serve as a general diagnostic marker of ovarian malignancy.
Keywords: HOXA9; biomarker; methylation; ovarian cancer; ovarian malignancy; ovarian tumors.