2022 年第 3 期 第 17 卷

质谱分析及第二代测序技术检测白血病微小残留病的研究进展

Research progress of detection of minimal residual disease in leukemia by mass spectrometry and second-generation sequencing techniques

作者：逄瑷博张春燕田亚平

英文作者：Pang Aibo Zhang Chunyan Tian Yaping

单位：中国人民解放军总医院医学创新研究部出生缺陷防控技术研究中心，北京100853

英文单位：Birth Defects Prevention and Control Technology Research Center Medical Research and Innovation Department Chinese PLA General Hospital Beijing 100853 China

关键词：白血病；微小残留病；质谱分析；第二代测序技术

英文关键词：Leukemia;Minimalresidualdisease;Massspectrometry;Second-generationsequencingtechniques

• 摘要：

• 白血病是一种造血干细胞异常增殖与发育的进行性恶性疾病，其治疗的选择性十分有限，而微小残留病(MRD)已成为白血病复发的直接原因，也是患者生存的重要预后因素，因此MRD的检测有利于对白血病患者进行疾病状态评估、疗效判定、指导治疗及预测复发。临床广泛使用流式细胞术对MRD进行检测，但其检测能力较低，而新兴技术的快速发展则有望改善白血病患者的MRD检测，如质谱分析及第二代测序技术可以同时检测多个基因，对MRD的检测均具有较高的敏感性。本文对质谱分析及第二代测序技术检测白血病MRD的相关优点与局限性进行综述。

• Leukemia is a progressive malignant disease with abnormal proliferation and development of hematopoietic stem cells, and its therapeutic selectivity is very limited. Minimal residual disease (MRD) has become the direct cause of leukemia recurrence and also an important prognostic factor for patient survival. Therefore, the detection of MRD is helpful to evaluate the disease status, evaluate the efficacy, guide the treatment and predict the recurrence in patients with leukemia. Flow cytometry is widely used in clinical detection of MRD. However, it has low detection ability. The rapid development of emerging technologies is expected to improve MRD detection of leukemia patients, such as mass spectrometry and second-generation sequencing technology can detect multiple genes at the same time, which had high sensitivity to MRD detection. In this paper, the advantages and limitations of the two methods are reviewed.