Huang Sai, Yang Hua, Gao Li, Dou Li-Ping, Xu Yuan-Yuan, Wang Nan, Wang Li-Li, Yu Li
Department of Hematology, Chinese PLA General Hospital, Beijing 100853, China.
Department of Hematology, China-Japan Freindship Hospital, Beijing 100029, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2013 Dec;21(6):1435-40. doi: 10.7534/j.issn.1009-2137.2013.06.013.
This study was aimed to explore the value of detecting the expression levels of MLL-AF9 (mixed lineage leukemia, MLL) fusion gene during the treatment of acute myeloid leukemia (AML) by real-time fluorescence quantitative PCR (RQ-PCR), and to evaluate its prognostic significance in monitoring minimal residual disease (MRD). The expression levels of 11 patients with MLL-AF9 fusion gene positive were detected precisely by RQ-PCR during the treatment in order to analyze the correlation of detection results with clinical manifestations. The results showed that the expression levels of MLL-AF9 fusion gene in patients at initial diagnosis were 1.3%-55.28%.
obtained from 5 patients who received chemotherapy alone during the interval between first and second courses of chemotherapy indicated that 2 patients with <0.1% of MLL-AF9 fusion gene expression levels all achieved hematologic complete remission and survived, while the remaining 3 patients with ≥ 0.1% of MLL-AF9 fusion gene did not achieve hematologic complete remission and only 1 case survived. Moreover, results obtained from 6 transplant patients within a month before the transplantation suggested that 4 of them with < 0.1% of MLL-AF9 fusion gene expression levels survived without relapses, while the remaining 2 patients with ≥ 0.1% of MLL-AF9 fusion gene expression levels relapsed and died. Besides, MLL-AF9 fusion gene expression levels were ≥ 0.1% within one month before the morphological relapse of bone marrow in 2 recurrent patients. It is concluded that the detecting the expression level of MLL-AF9 fusion gene by RQ-PCR is an effective and accurate method to quantify and monitor the MRD level of MLL-AF9 gene positive AML patients and may be used for early detecting molecular relapse of AML.
本研究旨在探讨通过实时荧光定量PCR（RQ-PCR）检测急性髓系白血病（AML）治疗期间MLL-AF9（混合谱系白血病，MLL）融合基因表达水平的价值，并评估其在监测微小残留病（MRD）中的预后意义。在治疗期间通过RQ-PCR精确检测11例MLL-AF9融合基因阳性患者的表达水平，以分析检测结果与临床表现的相关性。结果显示，初诊患者中MLL-AF9融合基因的表达水平为1.3%-55.28%。
在5例仅接受化疗的患者中，于第一疗程和第二疗程化疗间隔期获得的结果表明，2例MLL-AF9融合基因表达水平<0.1%的患者均实现血液学完全缓解并存活，而其余3例MLL-AF9融合基因表达水平≥0.1%的患者未实现血液学完全缓解，仅1例存活。此外，在6例移植患者移植前一个月内获得的结果表明，其中4例MLL-AF9融合基因表达水平<0.1%的患者存活且未复发，而其余2例MLL-AF9融合基因表达水平≥0.1%的患者复发并死亡。此外，2例复发患者在骨髓形态学复发前一个月内MLL-AF9融合基因表达水平≥0.1%。结论是，通过RQ-PCR检测MLL-AF9融合基因表达水平是定量和监测MLL-AF9基因阳性AML患者MRD水平的有效且准确的方法，可用于早期检测AML的分子复发。
