Ginekologia polska · 2026
Integration of ultrasonography and circulating tumor DNA analysis enhances early detection of asymptomatic ovarian cancer.
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Jiapaer Rexida, Ma Yan
Аннотация
OBJECTIVES: Ovarian cancer is a highly lethal gynecological malignancy with poor prognosis. Early diagnosis of ovarian cancer is crucial for improving patient survival rates. Ultrasound is currently the most used imaging modality for the detection of ovarian cancer. However, its diagnostic accuracy is limited, particularly in the early stages of the disease. Circulating tumor DNA (ctDNA) has emerged as a promising noninvasive biomarker for cancer diagnosis. In this study, we aimed to investigate the clinical value of ultrasound combined with ctDNA (mutations in: TP53, KRAS, and PIK3CA) in the early diagnosis of ovarian cancer.
MATERIAL AND METHODS: A total of 686 participants were enrolled, comprising 186 advanced symptomatic ovarian cancer patients, 16 histologically confirmed asymptomatic ovarian cancer patients, and 484 patients with benign ovarian lesions. Of the 202 ovarian cancer cases, 57.4% were high-grade serous carcinomas, followed by endometrioid (15.8%), clear cell (9.9%), mucinous (7.9%), and low-grade serous carcinomas (6.9%). All participants underwent standardized ultrasound examination and ctDNA analysis. Ultrasound characteristics were evaluated for morphological features including mass composition, border definition, and presence of ascites. Circulating tumor DNA was analyzed for mutations in TP53, KRAS, and PIK3CA genes. Diagnostic performance was assessed through sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) calculations for individual and combined detection methods.
RESULTS: In asymptomatic ovarian cancer patients, ultrasonography revealed complex solid-cystic masses in 50.0% of cases and ascites in 43.75%, with 87.50% sensitivity and 94.33% specificity. Molecular analysis detected ctDNA mutations in 81.25% of asymptomatic cases, predominantly in TP53 (31.25%), KRAS (25.00%), and PIK3CA (25.00%). This analysis, which focused exclusively on these three genes, demonstrated 81.25% sensitivity and 97.46% specificity. The combined diagnostic approach significantly improved detection parameters (p < 0.001), with sensitivity increasing to 93.75%, specificity to 99.25%, PPV to 75.00%, and NPV to 99.85%. False-positive results decreased from 38 (ultrasound alone) and 17 (ctDNA alone) to 5 cases with the combined approach. Distinct mutation profiles were observed between cancer and benign groups, with only 15.91% of benign cases showing detectable ctDNA mutations.
CONCLUSIONS: Our results suggest that ctDNA is a promising biomarker for the early detection of ovarian cancer, with higher sensitivity and specificity than ultrasound. The combination of ultrasound and ctDNA may provide a more accurate diagnostic strategy for the early detection of ovarian cancer. These findings may contribute to the development of novel noninvasive biomarkers for the early diagnosis of ovarian cancer.
MATERIAL AND METHODS: A total of 686 participants were enrolled, comprising 186 advanced symptomatic ovarian cancer patients, 16 histologically confirmed asymptomatic ovarian cancer patients, and 484 patients with benign ovarian lesions. Of the 202 ovarian cancer cases, 57.4% were high-grade serous carcinomas, followed by endometrioid (15.8%), clear cell (9.9%), mucinous (7.9%), and low-grade serous carcinomas (6.9%). All participants underwent standardized ultrasound examination and ctDNA analysis. Ultrasound characteristics were evaluated for morphological features including mass composition, border definition, and presence of ascites. Circulating tumor DNA was analyzed for mutations in TP53, KRAS, and PIK3CA genes. Diagnostic performance was assessed through sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) calculations for individual and combined detection methods.
RESULTS: In asymptomatic ovarian cancer patients, ultrasonography revealed complex solid-cystic masses in 50.0% of cases and ascites in 43.75%, with 87.50% sensitivity and 94.33% specificity. Molecular analysis detected ctDNA mutations in 81.25% of asymptomatic cases, predominantly in TP53 (31.25%), KRAS (25.00%), and PIK3CA (25.00%). This analysis, which focused exclusively on these three genes, demonstrated 81.25% sensitivity and 97.46% specificity. The combined diagnostic approach significantly improved detection parameters (p < 0.001), with sensitivity increasing to 93.75%, specificity to 99.25%, PPV to 75.00%, and NPV to 99.85%. False-positive results decreased from 38 (ultrasound alone) and 17 (ctDNA alone) to 5 cases with the combined approach. Distinct mutation profiles were observed between cancer and benign groups, with only 15.91% of benign cases showing detectable ctDNA mutations.
CONCLUSIONS: Our results suggest that ctDNA is a promising biomarker for the early detection of ovarian cancer, with higher sensitivity and specificity than ultrasound. The combination of ultrasound and ctDNA may provide a more accurate diagnostic strategy for the early detection of ovarian cancer. These findings may contribute to the development of novel noninvasive biomarkers for the early diagnosis of ovarian cancer.