Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, Australia; School of Medicine, University of Adelaide, Adelaide, Australia; Clinical and Health Sciences, University of South Australia, Adelaide, Australia.
Department of Haematology, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK; Centre for Haematology, Department of Immunology and Inflammation, Faculty of Medicine, Imperial College London, London, UK.
Haematologica. 2022 Dec 1;107(12):2794-2809. doi: 10.3324/haematol.2022.281493.
Chronic myeloid leukemia is characterized by a single genetic abnormality resulting in a fusion gene whose mRNA product is easily detected and quantified by reverse-transcriptase polymerase chain reaction analysis. Measuring residual disease was originally introduced to identify patients relapsing after allogeneic stem cell transplantation but rapidly adopted to quantify responses to tyrosine kinase inhibitors. Real-time quantitative polymerase chain reaction is now an essential tool for the management of patients and is used to influence treatment decisions. In this review we track this development including the international collaboration to standardize results, discuss the integration of molecular monitoring with other factors that affect patients' management, and describe emerging technology. Four case histories describe varying scenarios in which the accurate measurement of residual disease identified patients at risk of disease progression and allowed appropriate investigations and timely clinical intervention.
慢性髓性白血病的特征是单一的遗传异常，导致融合基因的产生，其 mRNA 产物可以通过逆转录聚合酶链反应分析很容易地检测和定量。残留疾病的测量最初是为了识别异体干细胞移植后复发的患者，但很快被用于量化对酪氨酸激酶抑制剂的反应。实时定量聚合酶链反应现在是患者管理的重要工具，用于影响治疗决策。在这篇综述中，我们跟踪了这一发展，包括国际合作以标准化结果，讨论分子监测与影响患者管理的其他因素的整合，并描述新兴技术。四个病例描述了不同的情况，其中残留疾病的准确测量确定了有疾病进展风险的患者，并允许进行适当的检查和及时的临床干预。
