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急性髓系白血病中的微小残留病

Minimal residual disease in acute myelogenous leukemia.

作者信息

Cruz N M, Mencia-Trinchant N, Hassane D C, Guzman M L

机构信息

Division of Hematology/Oncology, Department of Medicine, Weill Cornell Medical College, New York, NY, USA.

出版信息

Int J Lab Hematol. 2017 May;39 Suppl 1(Suppl 1):53-60. doi: 10.1111/ijlh.12670.

Abstract

Treatment of acute myelogenous leukemia (AML) over the past four decades remains mostly unchanged and the prognosis for the majority of patients remains poor. Most of the significant advances that have been observed are in defining cytogenetic abnormalities, as well as the genetic and epigenetic profiles of AML patients. While new cytogenetic and genetic aberrations such as the FLT3-ITD and NPM1 mutations are able to guide prognosis for the majority of patients with AML, outcomes are still dismal and relapse rates remain high. It is thought that relapse in AML is in part driven by minimal residual disease (MRD) that remains in the patient following treatment. Thus, there is a need for sensitive and objective methodology for MRD detection. Methodologies such as multiparameter flow cytometry (MFC), quantitative real-time polymerase chain reaction (RQ-PCR), digital PCR (dPCR), or next-generation sequencing (NGS) are being employed to evaluate their utility in MRD assessment. In this review, we will provide an overview of AML and the clinical utility of MRD measurement. We will discuss optimal timing to MRD measurement, the different approaches that are available, and efforts in the standardization across laboratories.

摘要

在过去的四十年里,急性髓系白血病(AML)的治疗方法基本没有变化,大多数患者的预后仍然很差。已观察到的大多数重大进展在于确定细胞遗传学异常以及AML患者的基因和表观遗传特征。虽然新的细胞遗传学和基因畸变,如FLT3-ITD和NPM1突变,能够为大多数AML患者的预后提供指导,但治疗结果仍然令人沮丧,复发率仍然很高。人们认为,AML复发部分是由治疗后患者体内残留的微小残留病(MRD)驱动的。因此,需要一种灵敏且客观的MRD检测方法。多参数流式细胞术(MFC)、定量实时聚合酶链反应(RQ-PCR)、数字PCR(dPCR)或下一代测序(NGS)等方法正在被用于评估它们在MRD评估中的效用。在这篇综述中,我们将概述AML以及MRD检测的临床效用。我们将讨论进行MRD检测的最佳时机、可用的不同方法,以及各实验室在标准化方面所做的努力。

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Minimal residual disease in acute myelogenous leukemia.急性髓系白血病中的微小残留病
Int J Lab Hematol. 2017 May;39 Suppl 1(Suppl 1):53-60. doi: 10.1111/ijlh.12670.

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