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TUESDAY, March 31, 2020 (HealthDay News) — Methylation analysis of circulating cell-free DNA (cfDNA) sequencing can detect malignancy across stages with high specificity, according to a study published online March 30 in the Annals of Oncology<\/i>.<\/p>\n
Minetta C. Liu, M.D., from the Mayo Clinic in Rochester, Minnesota, and colleagues assessed the performance of targeted methylation analysis of cfDNA among 6,689 participants (2,428 with cancer [>50 types] and 4,207 without cancer) who were categorized into training and validation sets. Bisulfite sequencing targeting a panel of >100,000 informative methylation regions was performed on plasma cfDNA. A classifier was developed and validated for detecting cancer and localization of tissue of origin (TOO).<\/p>\n
The researchers observed consistent performance in the training and validation sets. Specificity was 99.3 percent in the validation set. In a prespecified set of 12 cancer types, which account for about 63 percent of U.S. cancer deaths annually, stage I to III sensitivity was 67.3 percent; sensitivity was 43.9 percent in all cancer types. With increasing stage, detection increased: In the prespecified cancer types, sensitivity was 39, 69, 83, and 92 percent in stages I, II, III, and IV, respectively. In 96 percent of samples with a cancer-like signal, TOO was predicted; TOO localization was accurate in 93 percent.<\/p>\n
“These results support the feasibility of employing this targeted methylation analysis of cfDNA in ongoing clinical trials in the intended use population for early cancer detection,” the authors write.<\/p>\n
Several authors disclosed financial ties to biopharmaceutical and biotechnology companies, including GRAIL, which funded the study.<\/p>\n