恶性血液病常见易位相关融合基因的检测

Detection of Common Translocation Fusion Genes in Hematologic Malignancies

目的探讨多重巢式RT-PCR技术在检测不同类型恶性血液病患者常见的易位相关融合基因中的价值。方法采用多重巢式RT-PCR方法和染色体核型对110例患者29种染色体结构畸变形成的融合基因进行分析。结果110例患者骨髓标本中,52例(47.3%)具有14种染色体结构畸变产生的融合基因,包括EVI1、E2A/HLF、DEK/CAN、MLL/AF6、AML1/ETO、MLL/AF9、TLS/ERG、BCR/ABL、MLL/AF10、MLL/MLL、MLL/ENL、TEL/AML1、PML/RARα、CBFβ/MYH11。在13例患者中检出HOX11原癌基因活化,其中3例伴有其他染色体结构畸变产生的融合基因,10例只检出HOX11原癌基因的活化,未伴有其他融合基因。结论多重巢式RT-PCR技术可用于白血病患者初诊时染色体畸变的筛选,迅速获知患者的染色体结构畸变情况。

Objective To investigate the value of multiplex nested reverse transcription-polymerase chain reaction （multiplex nested RT- PCR）in the detection of common translocation fusion genes in the patients with hematologic malignancies. Methods Bone marrow samples from 110 patients with hematologic malignancies were analyzed by using a novel multiplex nested RT-PCR and examination for chromosome karyotype. Results Of the I10 leukemic samples,52（47.3% ）had 14 types of fusion genes including EVIl ,E2A/HLF,DEK/CAN,MLL/AF6, AML1/ETO, MLL/AF9, TIS/ERG, BCR/ABL, MLL/AF10, MLL/MLL, MLL/ENL, TEL/AML1, PML/RAR α and CBF 13/MYH 11. The activation of oncogene HOX11 was detected in 13 cases in which 3 cases were associated with other chromosome aberrations and 10 cases were associat- ed with no other chromosome aberrations. Conclusion Multiplex nested RT-PCR technique can quickly screen chromosome structural aberrations in patients with newly diagnosed leukemia.