The ability to identify a specific type of leukemia using minimally invasive biopsies holds great promise to improve the diagnosis,treatment selection,and prognosis prediction of patients.Using genome-wide methylation...The ability to identify a specific type of leukemia using minimally invasive biopsies holds great promise to improve the diagnosis,treatment selection,and prognosis prediction of patients.Using genome-wide methylation profiling and machine learning methods,we investigated the utility of CpG methylation status to differentiate blood from patients with acute lymphocytic leukemia(ALL)or acute myelogenous leukemia(AML)from normal blood.We established a CpG methylation panel that can distinguish ALL and AML blood from normal blood as well as ALL blood from AML blood with high sensitivity and specificity.We then developed a methylation-based survival classifier with 23 CpGs for ALL and 20 CpGs for AML that could successfully divide patients into high-risk and low-risk groups,with significant differences in clinical outcome in each leukemia type.Together,these findings demonstrate that methylation profiles can be highly sensitive and specific in the accurate diagnosis of ALL and AML,with implications for the prediction of prognosis and treatment selection.展开更多
基金supported in part by the National Natural Science Foundation of China(Grant 81102248)Science and Technology Plan Projects of Guangdong(Grant 2014A020212695)Natural Science Foundation of Guangdong Province,Major Special Project of Guangzhou Science and Technology and Information Bureau(Grant 122400037)。
文摘The ability to identify a specific type of leukemia using minimally invasive biopsies holds great promise to improve the diagnosis,treatment selection,and prognosis prediction of patients.Using genome-wide methylation profiling and machine learning methods,we investigated the utility of CpG methylation status to differentiate blood from patients with acute lymphocytic leukemia(ALL)or acute myelogenous leukemia(AML)from normal blood.We established a CpG methylation panel that can distinguish ALL and AML blood from normal blood as well as ALL blood from AML blood with high sensitivity and specificity.We then developed a methylation-based survival classifier with 23 CpGs for ALL and 20 CpGs for AML that could successfully divide patients into high-risk and low-risk groups,with significant differences in clinical outcome in each leukemia type.Together,these findings demonstrate that methylation profiles can be highly sensitive and specific in the accurate diagnosis of ALL and AML,with implications for the prediction of prognosis and treatment selection.