Role of liquid biopsy (circulating tumor DNA) in early detection of ovarian cancer
DOI:
https://doi.org/10.36283/ziun-pjmd15-2/020Keywords:
Ovarian cancer, liquid biopsy, circulating tumor DNA, early detection, CA-125, diagnostic accuracyAbstract
Background: Ovarian cancer is a major cause of mortality around the globe related to gynaecological cancer, and this is primarily attributed to late diagnosis and the non-existence of effective early screening reagents. The purpose of the research was to assess the diagnostic abilities of circulating tumor DNA (ctDNA) as a liquid biopsy method to detect ovarian cancer in its initial phases of progression.
Methods : This is a cross-sectional analytical study conducted at the Gynaeoncology unit at Lady Willingdon Hospital/ King Edward Medical University, Lahore, between March and August 2025. The study involved 105 female patients who had suspected ovarian masses. Blood samples were collected before the operation, and ctDNA was isolated and sequenced using digital droplet PCR and next-generation sequencing to detect tumor-related mutations. Data were analyzed using SPSS.
Results : The median age of the patients was 52.67±11.41 years, and 59.0% were postmenopausal. Histopathology identified ovarian malignancy in 82 patients (78.1) and benign lesions in 23 patients (21.9%). ctDNA was detected in 72 malignant lesions (87.8%) of which 20 lesions were at an early stage of cancer (76.9%). The overall sensitivity of ctDNA was 87.8, specificity 87.0, PPV 96.0, NPV 66.7, and AUC 0.91
Conclusion: ctDNA proved to have a high diagnostic accuracy over CA-125 and had the potential to determine early ovarian cancer. Its integration into clinical practice, in addition to the traditional approaches, might lead to better diagnosis and outcomes in the early stages
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