KEY TAKEAWAYS
- The PERCEIVE-I, an observational study aimed to detect gynecological malignancies at an early stage.
- The study collected blood and tissue samples from women with gynecological malignancies and age-matched controls and analyzed methylation patterns in the samples to detect ovarian cancer early.
- The study found blood DNA methylation can be used as a biomarker for early detection of ovarian cancer.
DNA methylation changes in ovarian cancer can be detected in blood. However, the difference between tissue and blood DNA methylation patterns remains unclear.
Researchers aimed to detect gynecological malignancies at an early stage.
The study gathered blood and matched tissue samples. Age-matched non-cancer control blood samples were included. All samples were sequenced using a targeted methylation panel (490,000 CpG sites). Ovarian cancer methylation patterns were examined using 11 paired cancer-adjacent tissue samples and 170 blood samples (cancer, n=48; non-cancer control, n=122).
The study found 7,225 differentially methylated blocks (DMBs) in cancer and adjacent tissues—5,093 hypomethylated and 2,132 hypermethylated. Cancer blood samples had 5,853 hypomethylated and 8,685 hypermethylated DMBs versus non-cancer controls. Among the 7,225 tissue DMBs, 54.8% (3,962 blocks) were similarly altered in blood, including 2,354 hypomethylated and 1,114 hypermethylated. Hypomethylated blocks were linked to synaptic membrane regulation and DNA-binding transcription activation. In contrast, as GO analysis shows, hypermethylated blocks were enriched in pattern specification, transcription factor complex, and DNA-binding transcription activation. The changes in the mentioned 3,962 DMBs in tissue showed a strong correlation with blood alterations (correlation coefficients of 0.71, 0.50, 0.73, and 0.73 for stages I-IV, respectively). Among patients with germline BRCA1/2 mutations (n=11), most DMBs did not significantly differ from those without mutations (n=37).
The study found blood DNA methylation changes were similar to tissue DNA methylation changes in ovarian cancer, suggesting that blood DNA methylation can be used as a biomarker for early detection.
Source: https://ascopubs.org/doi/abs/10.1200/JCO.2023.41.16_suppl.5558
Clinical Trial: https://classic.clinicaltrials.gov/ct2/show/NCT04903665
Hao Wen, Zheng Feng, Huijuan Ge, Yanan Wang, Jingshu Wang, Xiaoran Sun, Bo Yang, Chenlian Quan, Xiaoyan Zhou, and Xiaohua Wu. DOI: 10.1200/JCO.2023.41.16_suppl.5558 Journal of Clinical Oncology 41, no. 16_suppl (June 01, 2023) 5558-5558.
