多重RT-PCR方法同时检测29种白血病融合基因

Detection of 29 types of fusion gene in leukemia by multiplex RT-PCR

目的 探讨同时检测白血病 2 9种染色体结构畸变形成的融合基因与MIC分型的关系。方法 采用多重巢式RT PCR方法对 191例儿童白血病 2 9种染色体结构畸变形成的融合基因进行分析。结果 191例白血病患者骨髓或外周血标本中 ,86例 ( 45 .0 %)具有 14种染色体结构畸变产生的融合基因 ,包括SIL/TAL1、MLL/AF1q、E2A/PBX1、MLL/AF6、AML1/ETO、MLL/AF9、TEL/ABL、BCR/ABL、MLL/AF10、dupMLL、MLL/ENL、TEL/AML1、PML/RARα、CBFβ/MYH11。在 31例患者中检出HOX11原癌基因活化 ,其中 15例 ( 7.8%)伴有其它染色体结构畸变产生的融合基因 ,16例 ( 8.4%)只检出HOX11原癌基因的活化 ,未伴有其它融合基因。结论 采用多重巢式RT PCR方法 ,可快速分析 2 9种染色体结构畸变产生的融合基因 ,可同时筛选出 2 9种急性白血病的常见染色体易位 ,帮助化疗和骨髓移植后微量残留病的检测。

Objective To analyze the fusion genes derived from 29 types of chromosome structural aberrations in children with leukemia. Methods Bone marrow samples from 191 children with leukemia were analyzed with a novel multiplex nested RT-PCR. Results Of the 191 leukemic samples, 86 (45.0%) carried 14 types of fusion genes including SIL/TAL1, MLL/AF1q, E2A/PBX1, MLL/AF6, AML1/ETO, MLL/AF9, TEL/ABL, BCR/ABL, MLL/AF10, dupMLL, MLL/ENL, TEL/AML1, PML/RARα and CBFβ/MYH11. The activation of oncogene HOX11 was detected in 31 cases, with or without other chromosome aberrations in 15 (7.8%) and 16 cases (8。4%), respectively. Conclusion This multiplex nested RT-PCR reaction could screen 29 types of chromosome structural aberrations at the same time. It may be helpful for the detection of minimal residual diseases after chemotherapy and bone marrow transplantation.