急性白血病患者混合谱系白血病基因重排的检测

 【摘要】　目的　探讨荧光原位杂交（FISH）技术和多重巢式RT-PCR技术对急性白血病（AL）患者混合谱系白血病（MLL）基因重排检测的价值。方法　采用MLL双色FISH基因探针，应用间期FISH和多重巢式RT-PCR技术对189例AL患者进行检测，同时进行染色体R或G显带。结果　179例AL患者行FISH检测，其中9例（5.03 %）MLL基因重排阳性[无MLL-部分串联重复（PTD）]，而经多重巢式RT-PCR检测的189例中16例（8.47 %）MLL基因重排阳性，包括MLL／AF9、MLL／AF10、MLL／AF6、MLL／AF17、MLL／ELL、MLL-PTD，189例患者同时进行染色体R或G显带，其中仅5例（2.65 %）涉及11q23的相互易位。急性淋巴细胞白血病（ALL）（73例）与急性髓系白血病（AML）（116例）中6种常见MLL基因重排的发生率差异均无统计学意义（均P＞0.05）。结论　多重巢式RT-PCR技术是对初诊AL患者进行MLL基因重排筛检的有效方法，不仅能证实常规细胞遗传学易位，还能检测出染色体核型分析和FISH技术均不能检出的 MLL-PTD，为预后判断和治疗方案的选择提供依据。

Detection of rearrangements of mixed lineage leukemia gene in acute leukemia patients

Objective To explore the value of fluorescence in situ hybridization （FISH） and multiplex RT-PCR in the detection of mixed lineage leukemia （MLL） gene rearrangement in acute leukemia （AL） patients. Methods Dual-color MLL probe, multiplex RT-PCR and R or G banding techniques were used to detect the MLL gene rearrangement in 189 cases of AL. Results MLL gene rearrangements were detected in 9 cases （5.03 %） by FISH, and 16 cases （8.47 %） by multiplex RT-PCR, including MLL/AF9, MLL/AFIO, MLL/AF6, MLIJAF7, MLL/ELL, MLL/PTD. R or G banding techniques could find 11q23 in 5 out of 189 patients （2.65 %）. There was no statistic difference in the incidence of 6 common MLL gene rearrangements between ALL （73 cases） and AML patients （116 cases） （P 〉 0.05）. Conclusion Multiplex RT-PCR is a powerful technique in the detection of MLL gene rearrangement for tentatively diagnosed AL. It could not only confirm translocation detected by conventional cytogenetic method, but also detect MLL partial tandem duplication which could not been detected by cytogenetic examination or FISH. It plays an important role in guiding therapy and predicting prognosis for AL.