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Title: [Frequency and clinical features of ASXL2 gene mutation in acute myeloid leukemia patients with AML1- ETO fusion gene positive].
Author: Zhao JX, Chen XH, Li JL, Pan J, Tan YH, Xu ZF, Ren FG, Zhang YF, Xu J, Li MQ, Li J, Zhang N, Chang JM, Wang XJ, Wang HW.
Journal: Zhonghua Xue Ye Xue Za Zhi; 2016 Aug 14; 37(8):676-81. PubMed ID: 27587249.
Abstract:
OBJECTIVE: To investigate frequency and clinical features of additional sex combs-like 2 (ASXL2) gene mutation in acute myeloid leukemia (AML) patients with AML1-ETO fusion gene and to analyze the relationship between ASXL2 gene mutation and c- kit gene mutation. METHODS: Mutation analysis of exon 11 and 12 of ASXL2 gene in 59 de novo AML patients was performed by using polymerase chain reaction (PCR) followed by sequence analysis. The clinical features, survival curve and c-kit gene mutation in ASXL2 gene mutation positive and negative patients were compared. RESULTS: In a total of 59 AML patients with AML1-ETO fusion gene positive, 11.9% (7/59) patients harboured ASXL2 gene mutations. The hemoglobin levels of patients with mutated ASXL2 gene [56.2 (38.0- 72.0) g/L] were significantly lower than those with wild type ASXL2 [69.0(37.2-154.0) g/L] (P=0.038). Differences were not observed in white blood cell counts, platelet counts, the proportion of acidophilic cell, and the proportion of primitive cell in the marrow between patients with mutant ASXL2 and ones without mutant ASXL2 (P>0.05). None of all 59 patients suffered from liver, spleen, central nervous system metastases in both groups. Moreover, enlarged lymph nodes was similar between patients with mutant ASXL2 and ones without mutant ASXL2 (P=0.859). Immunophenotypic analysis: in positive group CD33 positive expression was significantly lower than that of negative group (P=0.033). cCD3 was not expressed in both groups. Expression levels of CD117, cMPO, HLA-DR, CD34, CD38, CD13, CD44, CD15, CD64, CD11b, CD56, CD19, cCD79a and CD7 were similar between patients with mutant ASXL2 and ones without mutant ASXL2 (P>0.05). All of 59 patients were in remission (P=0.577). Overall survival was similar between patients with mutant ASXL2 and ones without mutant ASXL2 (P=0.631). The mutation rates of c- kit in positive group and negative group were 14.3% and 29.4%, without statistical significance (P= 0.697). CONCLUSIONS: ASXL2 mutation may be a new event that can cooperate with AML1-ETO to induce leukemia. Patients in AML1- ETO positive AML with ASXL2 mutation show specific clinical characteristics of hemoglobin levels and expression level of CD33. ASXL2 gene mutations and c-kit gene mutations may not have a specific correlation between them. 目的: 探讨伴AML1-ETO融合基因的急性髓系白血病（AML）患者ASXL2基因突变情况、突变阳性患者临床特征及ASXL2基因突变与c-kit基因突变的关系。方法: 采用PCR扩增产物片段直接测序分析法，检测59例伴AML1-ETO融合基因初发AML患者ASXL2基因第11、12外显子编码区突变情况，比较ASXL2基因突变阳性和阴性组患者的临床特征、生存及c-kit基因突变情况。结果: 59例患者中7例存在ASXL2突变，突变率为11.9%。ASXL2基因突变阳性组患者初诊时外周血红蛋白浓度中位数为56.2（38.0~72.0）g/L，显著低于ASXL2突变阴性组患者的69.0（37.2~154.0）g/L，差异有统计学意义（P=0.038）；外周血WBC、PLT、嗜酸粒细胞比例、骨髓原始细胞比例与ASXL2突变阴性组相比，差异均无统计学意义（P值均>0.05）。两组均未见肝、脾、中枢神经系统浸润；淋巴结不同程度肿大，但ASXL2基因突变阳性、阴性两组间差异无统计学意义（P=0.859）。免疫表型分析显示：ASXL2基因突变阳性组CD33表达显著低于阴性组（P=0.033）；两组患者均未表达cCD3，CD117、cMPO、HLA-DR、CD34、CD38、CD13、CD44、CD15、CD64、CD11b、CD56、CD19、cCD79a、CD7两组表达差异均无统计学意义（P值均>0.05）。ASXL2基因突变阳性与阴性组患者总缓解率、总生存时间差异均无统计学意义（P值分别为0.577、0.631）。两组c-kit基因突变检出率分别为14.3％和29.4%，差异无统计学意义（P=0.697）。结论: 该组伴AML1-ETO融合基因AML患者ASXL2基因突变率为11.9%。ASXL2突变阳性患者外周血红蛋白浓度、CD33表达方面呈现一定的临床特征。ASXL2基因突变与c-kit基因变突可能没有特定的关联性。

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