成人急性髓系白血病患者AML1融合基因的快速检测及其临床意义(英文)

Rapid Detection of AML1 Associated Fusion Genes in Patients with Adult Acute Myeloid Leukemia and Its Clinical Significance

本研究旨在检测AML1相关融合基因在成人急性髓系白血病(AML)患者中的发生率,并初步分析AML1融合基因与AML发生、发展及预后的相关性。利用多重巢式RT-PCR方法对168例初治AML患者的骨髓标本进行AML1融合基因(AML1-ETO,AML1-EVI1,AML1-MDS1,AML1-MTG16,AML1-PRDM16,AML1-LRP16,AML1-CLCA2和AML1-PRDX4)的快速检测。结果表明,168例AML初治患者的骨髓标本中,有18例出现AML1融合基因,其阳性率为10.7%,其中12例AML1-ETO阳性(7.14%),2例AML1-EVI1阳性(1.19%),1例AML1-MDS1阳性(0.6%),1例AML1-MTG16阳性(0.6%),1例AML1-PRDM16阳性(0.6%),1例AML1-CLCA2阳性(0.6%)。在AML1-ETO阳性患者中,有10例经过初次化疗达到完全缓解,2例经过了第二次化疗达到完全缓解;2例AML1-EVI1阳性患者经过初次化疗后并没有达到完全缓解;AML1-MDS1,AML1-MTG16,AML1-PRDM16及AML1-CACL2阳性患者经过初次化疗后均未达到完全缓解。结论:AML1融合基因在AML中较为常见,可以作为急性白血病诊断和预后标志,同时也为微小残留病(MRD)的检测提供了分子标志。

This study was aimed to detect the expression of AML1 fusion genes in the paitents with adult acute myeloid leukemia （ AML） and further to investigate their association w ith the progression and prognosis of AML. Bone marrow samples w ere collected from 168 patients w ith 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 w as analyzed by a novel multiplex nested RT-PCR. Positive samples and minimal residual disease w ere further examined by real-time fluorescent quantitative PCR. The results show ed that the AML1 fusion genes w ere found in 10. 7% （ 18 /168） patients. Among them,AML1-ETO in 12 （ 7. 1% ） cases w ere detected,AML1-EVI1 in 2 cases （ 1. 2% ） ,and AML1-MDS1,AML1MTG16,AML1-PRDM16,and AML1-CLCA2 in 1 case （ 0. 6% ） each w ere detected. Among the patients w ith AML1ETO,10 patients （ 10 /12,83. 33% ） achieved complete remission （ CR） after one cycle of chemotherapy,w hile 2 patients achieved CR after 2 cycles of chemotherapy. The 2 patients w ith AML1-EVI1 failed to achieve CR after one cycle of chemotherapy. Patients w ith 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 diagnostis and prognosis evaluation of AML and for monitorying MRD.