Chen Yang, Xie Yan-Yan, Fang Yu, Hong Ming, Liu Wen-Jie, Zhou Xuan, Zhang Wei, Shi Jin-Ning, Qian Si-Xuan
Department of Hematology, The Affiliated Jiangning Hospital of Nanjing Medical University, Nanjing 211100, Jiangsu Province, China.
Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, Jiangsu Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2024 Aug;32(4):1032-1038. doi: 10.19746/j.cnki.issn.1009-2137.2024.04.009.
To investigate the clinical characteristics and influence of co-mutated gene on acute myeloid leukemia patients (AML) with FMS-like tyrosine kinase-3 () mutations.
A total of 273 AML patients were enrolled, and the co-mutation gene data of the patients were collected to further analyze the prognosis of the patients. and other common mutations were quantified by PCR amplification products direct sequencing and second-generation sequencing (NGS).
When patients were divided into - , - , - + and - + group according to the type of mutations, it was found that the frequencies of , and mutation were significantly different among the 4 groups (all < 0.05). When patients were divided into allelic ratio (AR) ≥0.5 and <0.5 group, it was found that the frequencies of - , - + , and were significantly different between the two groups (all < 0.05). When patients were divided into normal and abnormal karyotype group, it was found that the frequencies of - , - , and were significantly different between the two groups (all < 0.05). The median overall survival (OS) of AML patients with - (including - + ) was longer than that of patients with - alone ( < 0.05). The OS and relapse-free survival (RFS) of AML patients with + were both shorter than those of patients with + (both < 0.05).
The mutation frequencies of co-mutated genes are correlated with subtypes of , karyotype and AR. AML patients with - have longer OS than patients with - alone, and patients with co-mutation of have shorter median OS and RFS.
探讨伴有FMS样酪氨酸激酶3（FLT3）突变的急性髓系白血病（AML）患者的临床特征及共突变基因对其的影响。
共纳入273例AML患者，收集患者的共突变基因数据以进一步分析患者的预后。通过聚合酶链反应（PCR）扩增产物直接测序和二代测序（NGS）对FLT3及其他常见突变进行定量分析。
根据FLT3突变类型将患者分为FLT3-ITD-、FLT3-TKD-、FLT3-ITD+TKD-和FLT3-ITD+TKD+组，发现4组中NRAS、KRAS和NPM1突变频率存在显著差异（均P<0.05）。将患者分为等位基因比率（AR）≥0.5和<0.5组，发现两组间FLT3-ITD-、FLT3-ITD+TKD-、NRAS和NPM1的频率存在显著差异（均P<0.05）。将患者分为核型正常和异常组，发现两组间FLT3-ITD-、FLT3-TKD-、NRAS和NPM1的频率存在显著差异（均P<0.05）。伴有FLT3-ITD（包括FLT3-ITD+TKD-）的AML患者的中位总生存期（OS）长于单纯FLT3-TKD-患者（P<0.05）。伴有FLT3+NPM1共突变的AML患者的OS和无复发生存期（RFS）均短于伴有FLT3-NPM1共突变的患者（均P<0.05）。
共突变基因的突变频率与FLT3亚型、核型及AR相关。伴有FLT3-ITD的AML患者的OS长于单纯FLT3-TKD-患者，而伴有FLT3+NPM1共突变的患者的中位OS和RFS较短。
