Cui Miao, Li Qing-Yun, Lu Xu-Zhang, Chao Hong-Ying, Cai Xiao-Hui, Liu Jie, Hua Hai-Ying, Wu Pin
School of Clinical Medicine, Dalian Medical University, Dalian 116000, Liaoning Province, China.
Department of Hematology, Changzhou No.2 People's Hospital, the Affiliated Hospital of Nanjing Medical University, Changzhou 213000, Jiangsu Province, China.E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2023 Aug;31(4):1019-1025. doi: 10.19746/j.cnki.issn.1009-2137.2023.04.014.
To investigate the occurrence of mutation in patients with t(8;21) acute myeloid leukemia (AML) and its correlation with some clinical parameters.
The clinical and laboratory data of 167 newly diagnosed AML patients with t(8;21) translocation were analyzed retrospectively. High-throughput DNA sequencing technology combined with Sanger sequencing method was used to detect 112 gene mutations. The occurrence of gene mutation and its influence on the remission rate after chemotherapy were analyzed.
Among 167 patients with t(8;21) AML, 15 patients (9.0%) carried mutations, including 6 cases of membrane proximal region mutations and 9 cases of truncation mutations in the cytoplasmic tail. The most common coexisting mutations of were (40.0%), (33.3%), (26.7%), (20.0%), (20.0%), (13.3%), etc. Compared with the wild type, the mutant group had a higher mutation rate of DNA methylation-related genes（ <0.001）. The median peripheral white blood cell (WBC) count of patients with gene mutation was 5.80 (3.20-8.56)×10/L at initial diagnosis, which was significantly lower than 8.80 (5.26-19.92)×10/L of the wild-type patients ( =0.017). There was no significant difference between the two groups in sex, median age, FAB classification, hemoglobin level, platelet count, etc. ( >0.05). The CR rate of the gene mutation group (100%) was significantly higher than that of the wild-type group (86.8%), but the difference was not statistically significant ( >0.05). The gene mutation group had a significantly higher CD19 positive rate and a higher -X rate than the wild group (86.7% 47.4%, =0.004; 33.3% 13.2%, =0.037).
There is a high incidence of mutation in t (8;21) AML patients. The clinical characteristics and coexisting mutation genes of mutation-positive patients are different from those of wild-type patients.
探讨t(8;21)急性髓系白血病（AML）患者中突变的发生情况及其与某些临床参数的相关性。
回顾性分析167例新诊断的伴有t(8;21)易位的AML患者的临床和实验室资料。采用高通量DNA测序技术结合Sanger测序方法检测112个基因突变。分析基因突变的发生情况及其对化疗后缓解率的影响。
在167例t(8;21) AML患者中，15例（9.0%）携带突变，其中6例为膜近端区域突变，9例为胞质尾截断突变。最常见的共存突变有（40.0%）、（33.3%）、（26.7%）、（20.0%）、（20.0%）、（13.3%）等。与野生型相比，突变组DNA甲基化相关基因的突变率更高（<0.001）。基因突变患者初诊时外周血白细胞（WBC）计数中位数为5.80（3.20 - 8.56）×10⁹/L，显著低于野生型患者的8.80（5.26 - 19.92）×10⁹/L（=0.017）。两组在性别、年龄中位数、FAB分型、血红蛋白水平、血小板计数等方面差异无统计学意义（>0.05）。基因突变组的完全缓解（CR）率（100%）显著高于野生型组（86.8%），但差异无统计学意义（>0.05）。基因突变组的CD19阳性率和-X率显著高于野生组（86.7%对47.4%，=0.004；33.3%对13.2%，=0.037）。
t(8;21) AML患者中突变发生率较高。突变阳性患者的临床特征和共存突变基因与野生型患者不同。
