Pan Jin-lan, Xue Yong-quan, Jiang Hai-yan, He Jun, Wang Wei, Wu Ya-fang
The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, Suzhou, Jiangsu, 215006 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Aug;22(4):444-6.
To explore the value of reverse transcription-multiplex nested PCR in detecting MLL rearrangement in lzAML-M4/M5.
Bone marrow chromosome preparation was made using direct method or short-term culture. Karyotypic analysis was carried out by R-banding technique. Five common MLL fusion genes and MLL partial tandem duplication in 40 AML cases, including 12 M4 and 28 M5 were detected by reverse transcription(RT)-multiplex nested PCR.
R-banding karyotypic analysis revealed 11q23 translocation including t(6;11)(q27;q23), t(9;11)(p21;q23), t(11;17)(q23;q21) and t(11;19)(q23;p13.1) in 7 cases. MLL rearrangements consisting of MLL/AF6 (1 case), MLL/AF9 (1 case), MLL/AF17 (2 cases), MLL/ELL (2 cases) and MLL partial tandem duplication(2 cases) were detected in 8 cases by RT-multiplex nested PCR. Among 8 cases with MLL rearrangement, 6 were chromosome translocation, 2 were MLL partial tandem duplication.
RT-multiplex nested PCR is a powerful technique in the detection of MLL rearrangement for tentativelly diagnosed AML-M4/M5.
探讨逆转录-多重巢式聚合酶链反应（RT-多重巢式PCR）检测急性髓系白血病M4/M5型（lzAML-M4/M5）中MLL重排的价值。
采用直接法或短期培养法制备骨髓染色体标本。用R显带技术进行核型分析。应用RT-多重巢式PCR检测40例急性髓系白血病患者（其中M4型12例，M5型28例）中的5种常见MLL融合基因及MLL部分串联重复。
R显带核型分析显示7例患者存在11q23易位，包括t(6;11)(q27;q23)、t(9;11)(p21;q23)、t(11;17)(q23;q21)和t(11;19)(q23;p13.1)。RT-多重巢式PCR检测到8例患者存在MLL重排，包括MLL/AF6（1例）、MLL/AF9（1例）、MLL/AF17（2例）、MLL/ELL（2例）及MLL部分串联重复（2例）。8例MLL重排患者中，6例为染色体易位，2例为MLL部分串联重复。
RT-多重巢式PCR是检测初诊AML-M4/M5中MLL重排的有力技术。
