Cui Peng, Xu Dong, Xing Tian, Ren Guo-Hua, Ma Shang-Min
Department of Blood Rheumatism and Immunity, Zibo First Hospital, Zibo 255200, Shandong Province, China.
Department of Blood Rheumatism and Immunity, Zibo First Hospital, Zibo 255200, Shandong Province, China,E-mail :
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2020 Feb;28(1):125-129. doi: 10.19746/j.cnki.issn.1009-2137.2020.01.021.
To analyze relation of ASXL2 gene mutation with the clinical characteristics, prognosis and C-KIT gene mutation in acute myeloid leukemia (AML) patients with AML1-ETO fusion gene.
The clinical data of 63 primary AML patients with AML1-ETO fusion gene were collected and retrospectively analyzed. The mutation of ASXL2 gene was directly sequenced by PCR. The clinical characteristics, C-KIT mutation rate and prognosis were compared between the patients with ASXL2 gene mutation (group A) and non-mutation (group B).
Among 63 patients, 8 (12.70%) cases of ASXL2 mutation gene was detected. Hemoglobin level in peripheral blood of patients in group A was significantly lower than that in group B (P＜0.01). There was no significant difference in sex, ages proportion of bone marrow blasts, lymph node enlargement, peripheral blood leukocytes count and platelets between the two groups (P＞0.05). The infiltration of central nervous system, liver and spleen was not found in both groups. The expression of CD33 in group A was significantly lower than that in group B (P＜0.05), but the results of other immunophenotype analysis were not significantly different between the two groups (P＞0.05). The remission rate and median survival time were not significantly different between two groups (P＞0.05). The detection rate of C-KIT gene mutation were not significantly different between group A and group B (P＞0.05).
Among AML patients with AML1-ETO fusion gene, ASXL2 gene mutation accounts for a certain ratio, and the peripheral blood hemoglobin concentration and CD33 expression in these patients are often low. At the same time, ASXL2 gene mutation may not be closely related with C-KIT gene mutation.
分析急性髓系白血病（AML）伴AML1-ETO融合基因患者中ASXL2基因突变与临床特征、预后及C-KIT基因突变的关系。
收集63例原发性AML伴AML1-ETO融合基因患者的临床资料并进行回顾性分析。采用PCR直接测序法检测ASXL2基因突变情况。比较ASXL2基因突变患者（A组）和未突变患者（B组）的临床特征、C-KIT基因突变率及预后。
63例患者中，检测到8例（12.70%）ASXL2基因突变。A组患者外周血血红蛋白水平显著低于B组（P＜0.01）。两组在性别、年龄、骨髓原始细胞比例、淋巴结肿大、外周血白细胞计数及血小板方面差异无统计学意义（P＞0.05）。两组均未发现中枢神经系统、肝脏及脾脏浸润。A组CD33表达显著低于B组（P＜0.05），但两组其他免疫表型分析结果差异无统计学意义（P＞0.05）。两组缓解率及中位生存时间差异无统计学意义（P＞0.05）。A组与B组C-KIT基因突变检测率差异无统计学意义（P＞0.05）。
在AML伴AML1-ETO融合基因患者中，ASXL2基因突变占有一定比例，这些患者外周血血红蛋白浓度及CD33表达常较低。同时，ASXL2基因突变可能与C-KIT基因突变无密切关系。
