应用多重RT-PCR在初发急性髓系白血病患者中筛查少见或难以识别的染色体易位

Application of Multiplex RT-PCR Assay for Screening Rare or Cryptic Chromosome Translocations in De Novo Patients with Acute Myeloid Leukemia

本研究探讨应用多重逆转录聚合酶链反应(reverse transcription polymerase chain reaction,RT-PCR)筛查少见/难以识别的染色体易位患者的临床应用可行性。建立了3组多重RT-PCR以检测常规核型分析检出率较低的6种mll相关基因重排(mll/af10、mll/af17、mll/ell、mll/af9、mll/af6和mll/enl)和4种少见融合基因(dek/can、tls/erg、aml1/mds(evi1)和npm/mlf1)。结果表明:126例标本中共检测出11例阳性标本,涉及5种分子异常,其中10例为M5亚型(16.67%),1例为M4亚型(1.51%)。在这11例阳性标本中,2例患者核型分析见到标志染色体,1例患者仅有1个分裂相以致无法分析核型,其余8例用R-显带核型分析均未发现异常。结论:本研究设计的多重RT-PCR可便捷地、有效和准确地识别多种少见/难以发现的染色体易位。

This study was aimed to investigate the clinical feasibility of using multiplex PT-PCR assay for screening rare/cryptic chromosome translocations in patients with de novo acute myeloid leukemia.For 126 patients with de novo AML-M4/M5 without common chromosome translocations including t（15;17）,t（8;21） and t（16;16）,3 parallel multiplex RT-PCR assays were set up to detect 6 mll-related gene rearragements（mll/af10,mll/af17,mll/ell,mll/af9,mll/af6 and mll/enl）with low detection rate and 4 rare fusion genes（dek/can,tls/erg,aml1/mds（evi1） and npm/mlf1）.The results showed that 11 patients with positive result from 126 patients were detected which involved in 5 molecular abnormalities.Among them,10 cases were AML-M5（16.67%）,1 cases AML-M4（1.51%）.The marker chromosomes were observed in 2 cases out of 11 cases through conventional karyotyping analysis,the karyotyping analysis in 1 case was not perfomed because this case had 1 mitotic figure only,no any cytogenetic aberrations were found in other 8 cases through R-band karyotyping analysis.It is concluded that multiplex RT-PCR designed in this study can quickly,effectively and accurately identify the rare/cryptic chromosome translocations and can be used in clinical detection.