Circulating tumor DNA methylation marker MYO1-G for diagnosis and monitoring of colorectal cancer

Clinical Epigenetics

Zi-Yi Ye¹  Hui-Yan Luo¹  Zhao-Lei Zeng¹  Da-Liang Wei¹  Rui-Hua Xu¹  Wu-Hao Lin²  Xiao-Hui Zhai³  Jian Xiao³ 

[1] Department of Medical Oncology, Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Sun Yat-Sen University, 651 Dong Feng Road East, 510060, Guangzhou, People’s Republic of China;Research Unit of Precision Diagnosis and Treatment for Gastrointestinal Cancer, Chinese Academy of Medical Sciences, 510060, Guangzhou, People’s Republic of China;Department of Medical Oncology, Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Sun Yat-Sen University, 651 Dong Feng Road East, 510060, Guangzhou, People’s Republic of China;Research Unit of Precision Diagnosis and Treatment for Gastrointestinal Cancer, Chinese Academy of Medical Sciences, 510060, Guangzhou, People’s Republic of China;Faculty of Medical Sciences, Sun Yat-Sen University, 510080, Guangzhou, People’s Republic of China;Department of Medical Oncology, The Sixth Affiliated Hospital of Sun-Yat Sen University, 510655, Guangzhou, People’s Republic of China;

关键词: Colorectal cancer;    CtDNA;    Methylation biomarker;    Diagnosis;    Monitoring;   

DOI  :  10.1186/s13148-021-01216-0

来源: Springer

【 摘 要 】

BackgroundCirculating tumor DNA (ctDNA) is a promising diagnostic and prognostic marker for many cancers and has been actively investigated in recent years. Previous studies have already demonstrated the potential use of ctDNA methylation markers in the diagnosis and prognostication of colorectal cancer (CRC). This retrospective study validated the value of methylation biomarker MYO1-G (cg10673833) in CRC diagnosis and disease monitoring using digital droplet PCR (ddPCR), a biomarker selected from our previous study due to its highest diagnostic efficiency.MethodsBlood samples of CRC and control samples from tumor-free individuals at two institutions were collected to quantify the methylation ratio using ddPCR. Area under curve (AUC) was calculated after constructing receiver operating characteristic curve (ROC) for CRC diagnosis. Sensitivity and specificity were estimated and comparisons of methylation ratio in different groups were performed.ResultsWe collected 673 blood samples from 272 patients diagnosed with stage I-IV CRC and 402 normal control samples. The methylation biomarker discriminated patients with CRC from normal controls with high accuracy (area under curve [AUC] = 0.94) and yielded a sensitivity of 84.3% and specificity of 94.5%. Besides, methylation ratio of MYO1-G was associated with tumor burden and treatment response. The methylation ratio was significantly lower in patients after their radical operation than when compared with those before surgeries (P < 0.001). Methylation ratio was significantly higher in patients with disease progression than those with stable disease (P = 0.002) and those with complete response or partial response (P = 0.009).ConclusionsTogether, our study indicated that this methylation marker can serve as a potential biomarker for diagnosing and monitoring CRC.

【 授权许可】

CC BY