XÂY DỰNG QUI TRÌNH SINH THIẾT LỎNG SPOT-MAS PHÁT HIỆN NHIỀU LOẠI UNG THƯ TỪ GIAI ĐOẠN SỚM

Abstract

Background: In 2020, there were 182,563 new cancer cases and 122,690 cancer-related deaths in Viet Nam, the most frequent of which are liver (14.5%), lung (14.4%), breast (11.8%) and colorectal (9.0%) cancers. Multi-cancer early detection could reduce 78% of patients diagnosed with late-stage cancer and decrease 26% of the cancer mortality. In addition, early cancer detection could improve the efficacy of cancer treatment and reduce medical cost. Objective: In this study, we developed a liquid biopsy assay for early multi-cancer detection, known as SPOT-MAS. Method: The SPOT-MAS uniquely combined four features of ctDNA (DNA released from tumor into the bloodstream) including 450 targeted hypermethylation regions, genome-wide hypomethylation, length profile of ctDNA and genome-wide copy number variation and advanced machine learning engine to increase the chance of detecting rare ctDNA in earlier cancer. This combinatorial analysis allows to detect multi-cancer in a single test. The blood samples were collected from 285 cancer patients and 222 healthy subjects. Results: The sensitivity, specificity, positive predictive value and negative predictive value of SPOT-MAS test were 95,9% (95%CI: 95,8-96), 95,4% (95%CI: 95,2-95,3) and 75,7% (95%CI: 74,7-76), respectively. Conclusion: The SPOT-MAS showed excellent performance in detecting earlier multi-cancer from a simple blood draw.