Jiang Meng-Meng, Gao Li, Jing Yu, Ding Yi, Xu Yuan-Yuan, Zhou Min-Hang, Ma Chao, Wang Nan, Wang Wei, Han Xiao-Ping, Li Hong-Hua, Wang Quan-Shun, Wang Li-Li, Yu Li
Department of Hematology, Chinese PLA General Hospital, Beijing 100853, China; Medical School, Nankai University, Tianjin 300071, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2013 Aug;21(4):821-9. doi: 10.7534/j.issn.1009-2137.2013.04.002.
This study was aimed to detect the expression of AML1 fusion genes in the patients with adult acute myeloid leukemia (AML) and further to investigate their association with the progression and prognosis of AML. Bone marrow samples were collected from 168 patients with de novo adult AML, and the expression of AML1 ETO, AML1-EVI1, AML1-MDS1, AML1-MTG16, AML1-PRDM16, AML1-LRP16, AML1-CLCA2 and AML1-PRDX4 was analyzed by a novel multiplex nested RT-PCR. Positive samples and minimal residual disease were further examined by real-time fluorescent quantitative PCR. The results showed that the AML1 fusion genes were found in 10.7% (18/168) patients. Among them, AML1-ETO in 12 (7.1%) cases were detected, AML1-EVI1 in 2 cases (1.2%), and AML1-MDS1, AML1-MTG16, AML1-PRDM16, and AML1-CLCA2 in 1 case (0.6%) each were detected. Among the patients with AML1-ETO, 10 patients (10/12, 83.33%) achieved complete remission (CR) after one cycle of chemotherapy, while 2 patients achieved CR after 2 cycles of chemotherapy. The 2 patients with AML1-EVI1 failed to achieve CR after one cycle of chemotherapy. Patients with AML1-MDS1, AML1-MTG16, AML1-PRDM16, or AML1-CACL2 did not achieve CR after one cycle of chemotherapy. It is concluded that AML1 fusion genes are more frequent and can provide the molecular markers for diagnostics and prognosis evaluation of AML and for monitoring MRD.
本研究旨在检测成人急性髓系白血病（AML）患者中AML1融合基因的表达，并进一步探讨其与AML进展及预后的关系。收集168例初发成人AML患者的骨髓样本，采用新型多重巢式RT-PCR分析AML1 ETO、AML1-EVI1、AML1-MDS1、AML1-MTG16、AML1-PRDM16、AML1-LRP16、AML1-CLCA2和AML1-PRDX4的表达。对阳性样本和微小残留病进一步采用实时荧光定量PCR检测。结果显示，10.7%（18/168）的患者检测到AML1融合基因。其中，检测到AML1-ETO的有12例（7.1%），AML1-EVI1的有2例（1.2%）, AML1-MDS1、AML1-MTG16、AML1-PRDM16和AML1-CLCA2各有1例（0.6%）。在AML1-ETO患者中，10例（10/12，83.33%）患者化疗1个周期后达到完全缓解（CR），2例患者化疗2个周期后达到CR。2例AML1-EVI1患者化疗1个周期后未达到CR。AML1-MDS1、AML1-MTG16、AML1-PRDM16或AML1-CACL2患者化疗1个周期后未达到CR。结论：AML1融合基因较为常见，可为AML的诊断、预后评估及微小残留病监测提供分子标志物。
