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DNA methylation markers in the diagnosis and prognosis of common leukemias.
Signal Transduction and Targeted Therapy ( IF 40.8 ) Pub Date : 2020-01-10 , DOI: 10.1038/s41392-019-0090-5
Hua Jiang 1 , Zhiying Ou 1 , Yingyi He 1 , Meixing Yu 1 , Shaoqing Wu 1 , Gen Li 1 , Jie Zhu 1 , Ru Zhang 1 , Jiayi Wang 1 , Lianghong Zheng 2 , Xiaohong Zhang 1 , Wenge Hao 1 , Liya He 1 , Xiaoqiong Gu 1 , Qingli Quan 1 , Edward Zhang 1 , Huiyan Luo 3 , Wei Wei 3 , Zhihuan Li 2 , Guangxi Zang 2 , Charlotte Zhang 1 , Tina Poon 1 , Daniel Zhang 1 , Ian Ziyar 2 , Run-Ze Zhang 2 , Oulan Li 2 , Linhai Cheng 2 , Taylor Shimizu 2 , Xinping Cui 4 , Jian-Kang Zhu 5 , Xin Sun 1 , Kang Zhang 1, 2, 6
Affiliation  

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.

中文翻译:


DNA甲基化标记物在常见白血病的诊断和预后中的应用。



使用微创活检来识别特定类型的白血病的能力为改善患者的诊断、治疗选择和预后预测带来了巨大希望。使用全基因组甲基化分析和机器学习方法,我们研究了 CpG 甲基化状态在区分急性淋巴细胞白血病 (ALL) 或急性髓性白血病 (AML) 患者血液与正常血液中的效用。我们建立了一个 CpG 甲基化面板,可以以高灵敏度和特异性区分 ALL 和 AML 血液与正常血液以及 ALL 血液与 AML 血液。然后,我们开发了一种基于甲基化的生存分类器,其中 23 个 CpG(用于 ALL)和 20 个 CpG(用于 AML),可以成功地将患者分为高风险组和低风险组,每种白血病类型的临床结果存在显着差异。总之,这些发现表明甲基化谱在 ALL 和 AML 的准确诊断中具有高度敏感性和特异性,对预后预测和治疗选择具有重要意义。
更新日期:2020-01-10
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