Cho Eun Kyung, Bang Soo Mee, Ahn Jeong Yeal, Yoo Seung Min, Park Pil Whan, Seo Yieh Hea, Shin Dong Bok, Lee Jae Hoon
Department of Internal Medicine, Gachon Medical School, Gil Medical Center, 1198 Guwol-dong, Namdong-gu, Incheon 405-760, Korea.
Korean J Intern Med. 2003 Mar;18(1):13-20. doi: 10.3904/kjim.2003.18.1.13.
The t (8;21) (q22;q22), which produces the fusion gene AML1/ETO, is associated with relatively good prognosis and, in particular, with a good response to cytosine arabinoside. Analysis of t (8;21) positive leukemic blasts has shown characteristic morphological and immunological features. We performed this study to investigate the incidence of AML1/ETO rearrangement in adult acute myelogenous leukemia (AML), especially in M2 subtype, to make a comparison of clinical, morphological and immunophenotypic characteristics between AML1/ETO rearrangement positive and negative group in patients with AML and to analyze the correlation with other biological parameters.
From May 1995 to Sept. 2000, fifty-nine patients with AML, including twenty-nine AML-M2, were studied. RNAs were extracted from leukemic cells and reverse transcriptase mediated polymerase chain reaction (RT-PCR) for AML1/ETO fusion transcript was done. Chromosome study, immunophenotypic and clinical characteristics were analyzed and statistical analysis was done.
The incidence of AML1/ETO fusion transcripts was 22.0% in AML and 44.8% in AML-M2. The morphologic finding of bone marrow in AML-M2 showed higher incidence of Auer rods, large blast with prominent golgi and abnormal granules in AML1/ETO positive patients. There was no significant difference of immunophenotype. AML patients with AML1/ETO had a tendency of higher complete remission rate (81.8% vs 56.6%, p = 0.13). The overall survival (median; 82.2 weeks vs 34.4 weeks, p = 0.02) and progression free survival (median; 50.9 weeks vs 20.4 weeks, p = 0.02) of AML1/ETO positive group were longer than those of the negative group in AML. AML-M2 patients with AML1/ETO rearrangement had also a tendency of longer overall survival and progression free survival, although there was no significant difference between both groups.
Our data suggest that AML1/ETO rearrangement is detected frequently in AML, especially M2, and is a favorable prognostic factor. Thus, molecular diagnostic approaches should be used routinely to identify patients with this gentic subtype of AML.
产生融合基因AML1/ETO的t(8;21)(q22;q22)与相对较好的预后相关，尤其与对阿糖胞苷的良好反应相关。对t(8;21)阳性白血病原始细胞的分析显示出特征性的形态学和免疫学特征。我们进行这项研究以调查成人急性髓性白血病（AML）中AML1/ETO重排的发生率，特别是在M2亚型中，比较AML患者中AML1/ETO重排阳性和阴性组的临床、形态学和免疫表型特征，并分析与其他生物学参数的相关性。
1995年5月至2000年9月，对59例AML患者进行了研究，其中包括29例AML-M2患者。从白血病细胞中提取RNA，并进行逆转录酶介导的聚合酶链反应（RT-PCR）以检测AML1/ETO融合转录本。分析染色体研究、免疫表型和临床特征并进行统计学分析。
AML中AML1/ETO融合转录本的发生率为22.0%，AML-M2中为44.8%。AML-M2患者骨髓的形态学表现显示，AML1/ETO阳性患者中Auer小体、具有明显高尔基体的大原始细胞和异常颗粒的发生率较高。免疫表型无显著差异。AML1/ETO阳性的AML患者完全缓解率有较高趋势（81.8%对56.6%，p = 0.13）。AML1/ETO阳性组的总生存期（中位数；82.2周对34.4周，p = 0.02）和无进展生存期（中位数；50.9周对20.4周，p = 0.02）长于AML阴性组。AML1/ETO重排的AML-M2患者总生存期和无进展生存期也有延长趋势，尽管两组之间无显著差异。
我们的数据表明，AML1/ETO重排在AML中，尤其是M2中经常被检测到，是一个有利的预后因素。因此，应常规使用分子诊断方法来识别这种AML基因亚型的患者。
