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目的研究儿童急性淋巴细胞白血病(acute lymphoblastic leukemia,ALL)染色体结构异常的融合基因与WHO分型的关系。方法采用多重逆转录聚合酶链反应(reverse transcription-polymerase chainreaction,RT-PCR)结合染色体R带核型分析、流式细胞仪细胞免疫表型检测技术对62例儿童ALL进行分析。结果62例ALL患儿中23例(37.1%)具有13种染色体畸变产生的融合基因。在前体B-ALL中检测到融合基因:TEL/AML13例、E2A/PBX11例、E2A/HLF1例、TLS/ERG1例、MLL/AF41例、MLL/AF91例、MLL/AF101例、伴MLL/AFX-MLL/AF6-MLL/ELL1例、伴MLL/AF6-MLL/ELL1例、dupMLL1例、HOX11基因活化6例。在前体T-ALL中检出TAL1D4例,其中有1例伴HOX11,检出HOX11基因活化2例。ALL患儿融合基因和染色体总畸变率为69.4%(43/62)。结论多重套式RT-PCR结合染色体核型、免疫表型技术是儿童ALL临床诊断、治疗和预后判断的重要依据,也是WHO分型的基础。
Objective To study the relationship between the WHO fusion gene and the chromosomal structural abnormalities in childhood acute lymphoblastic leukemia (ALL). Methods Sixty-two children with ALL were analyzed by reverse transcription-polymerase chain reaction (RT-PCR) combined with chromosome R band karyotype analysis and flow cytometry (FCM). Results Twenty-three (37.1%) of 62 children with ALL had fusion genes generated by 13 chromosomal aberrations. Fusion genes were detected in precursor B-ALL: TEL / AML13, E2A / PBX11, E2A / HLF1, TLS / ERG1, MLL / AF41, MLL / AF91 and MLL / AF101 with MLL / 1 case of AFX-MLL / AF6-MLL / ELL, 1 case of MLL / AF6-MLL / ELL, 1 case of dupMLL and 6 cases of HOX11 gene activation. In precursor T-ALL TAL1D4 cases were detected, of which 1 case with HOX11, detected HOX11 gene activation in 2 cases. ALL children with fusion gene and chromosome aberration rate was 69.4% (43/62). Conclusions Multiple nested RT-PCR combined with chromosome karyotype and immunophenotyping is an important basis for clinical diagnosis, treatment and prognosis of children with ALL. It is also the basis of WHO classification.