Yamaguchi Hiroki
Department of Hematology, Nippon Medical School.
Rinsho Ketsueki. 2020;61(8):965-970. doi: 10.11406/rinketsu.61.965.
Owing to recent advances in genome analysis technology, many chromosomal abnormalities and gene mutations involved in leukemia onset or recurrence have been discovered in acute myeloid leukemia. These findings contribute to not only the clinical usage, such as prognostic factors or minimal/measurable residual disease (MRD) markers, but also to the development of novel molecular-targeted drugs. In this study, the utility of MRD analysis using the NPM1 mutation and prognosis analysis using a highly sensitive KIT mutation detection method will be outlined.
由于基因组分析技术的最新进展，在急性髓系白血病中发现了许多与白血病发生或复发相关的染色体异常和基因突变。这些发现不仅有助于临床应用，如作为预后因素或微小/可测量残留病（MRD）标志物，还推动了新型分子靶向药物的研发。在本研究中，将概述使用NPM1突变进行MRD分析的效用以及使用高灵敏度KIT突变检测方法进行预后分析的情况。
