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目的了解白血病常见融合基因 M-bcr-abl(表达产物为 P210~(bcr-abl))、m-bcr-abl(表达产物为 P190~(bcr-abl))、TEL-AML1、AML1-ETO、PML-RARα、CBFβ-MYH11在初治白血病患者中的表达水平。方法采用基于 TaqMan 探针的实时定量 RT-PCR(RQ-PCR)技术检测195例白血病患者骨髓细胞融合基因转录子水平,其中 M-bcr-abl~+慢性粒细胞白血病慢性期(CML-CP)50例、M-bcr-abl~+急性淋巴细胞白血病(ALL)10例、m-bcr-abl~+ ALL 19例、TEL-AML1~+ ALL 11例、AML1-ETO~+急性髓系白血病(AML)30例、PML-RARα~+急性早幼粒细胞白血病(APL)58例、CBFβ-MYH11~+ AML 患者17例,并检测13例 M-bcr-abl~+ CML-CP 患者的外周血细胞融合基因转录子水平。以 abl 作为内参基因,融合基因转录子水平以融合基因转录子拷贝数/abl 基因转录子拷贝数×100%表示。结果 CML-CP 患者骨髓及外周血 M-bcr-abl 转录子水平相似(中位值分别为30%和35%,P>0.05)、ALL 患者 M-bcr-abl 及m-bcr-abl 转录子水平相似(中位值分别为64%和54%,P>0.05),ALL 患者 M-bcr-abl 转录子水平明显高于 CML-CP 患者(P<0.001)。ALL 患者 TEL-AML1转录子中位水平为228%。表达特异性融合基因的 AML 患者中,AML1-ETO 转录子水平明显高于 CBFβ-MYH11及 PML-RARα(中位值分别为388%,145%和47%,P 值均<0.001),CBFβ-MYH11转录子明显高于 PML-RARα(P<0.001)。L 型、V 型及 S 型 PML-RARα转录子中位水平分别为45%、44%及55%,L 型明显低于 S 型(P=0.04)。结论不同类型融合基因转录子在初治白血病患者中的水平不同,并有个体差异。初治患者融合基因转录子水平的测定不仅为检测微量残留病、评价疗效提供基准值,而且是不同实验室间数据比较、实现标准化的基础。
OBJECTIVE: To investigate the expression of M-bcr-abl (the product of expression of P210 bcr-abl), m-bcr-abl (expression product of P190 bcr-abl), TEL-AML1, AML1-ETO, PML-RARα, CBFβ-MYH11 expression in untreated leukemia patients. Methods The level of bone marrow fusion gene transcripts in 195 patients with leukemia was detected by real-time quantitative RT-PCR (RQ-PCR) based on TaqMan probe. The levels of M-bcr-abl + chronic myeloid leukemia (CML- 50 cases of M-bcr-abl ~ + acute lymphoblastic leukemia (ALL) in 10 cases, m-bcr-abl ~ + ALL in 19 cases, TEL-AML1 ~ + ALL in 11 cases, AML1-ETO ~ + acute myeloid leukemia AML), PML-RARα ~ + acute promyelocytic leukemia (APL), 58 cases of CBFβ-MYH11 ~ + AML, and 13 cases of M-bcr-abl ~ + CML-CP Fusion gene transcript levels. With abl as an internal reference gene, the level of fusion gene transcripts was expressed as the copy number of the fusion gene transcript / copy number of the abl gene transcript × 100%. Results The levels of M-bcr-abl transcripts in bone marrow and peripheral blood were similar in CML-CP patients (median 30% and 35%, respectively; P> 0.05). M-bcr-abl and m-bcr-abl transcripts The levels of M-bcr-abl transcripts in patients with ALL were significantly higher than those in patients with CML-CP (median, 64% vs 54%, P> 0.05). The median TEL-AML1 transcript in ALL patients was 228%. The level of AML1-ETO transcripts in AML patients expressing specific fusion gene was significantly higher than those in CBFβ-MYH11 and PML-RARα (median, 388%, 145% and 47%, respectively, P <0.001) MYH11 transcripts were significantly higher than PML-RARα (P <0.001). The median PML-RARα transcripts were 45%, 44%, and 55%, respectively, for L type, V type and S type. The L type was significantly lower than that of S type (P = 0.04). Conclusion The levels of different types of fusion gene transcripts in patients with newly diagnosed leukemia are different and have individual differences. The determination of the level of fusion gene transcripts in newly diagnosed patients not only provides a reference value for the detection of residual disease and evaluation of curative effect, but also is the basis for comparison and data standardization among different laboratories.