目的研究急性淋巴细胞白血病(ALL)患儿染色体畸变所致融合基因与临床危险度分层及治疗的关系。方法采用多重RT-PCR方法检测儿童ALL的常见融合基因,结合染色体核型分析、免疫表型及临床资料对152例ALL患儿进行临床研究。结果 152例ALL患儿中有43例(29.5%)具有9种常见融合基因表达,包括TEL/AML1、BCR/ABL(P190)、BCR/ABL(P210)、E2A/PBX1、MLL/ENL、MLL/AF9、TLS/ERG、CBF/MYH11、Hox11。TEL/AML1融合基因阳性23例,其中1例放弃治疗,1例因早期治疗反应不良,评估为高危,其他21例均早期治疗反应良好,目前停药10例(停药时间4~30个月),11例仍为完全缓解(CR),1例停药18个月后骨髓复发。E2A/PBX1融合基因阳性4例,其中3例评估为中危,目前均CR中,1例因早期治疗反应不良,评估为高危,化疗过程中复发死亡;BCR/ABL(P190)阳性5例,BCR/ABL(P210)阳性3例,其中5例行骨髓移植治疗(4例移植后数月骨髓复发,1例CR中),1例选择高危方案化疗后骨髓复发,另外2例临床未缓解,放弃治疗;MLL基因阳性2例,均评估为中危,1例MLL/AF9,经强化疗后目前已停药18个月,1例MLL/ENL,在化疗过程中复发,放弃治疗;TLS/ERG融合基因1例,早期治疗反应不良,经强化疗后达CR,目前已停药20个月;Hox11融合
Objective To investigate the relationship between fusion genes caused by chromosome aberration in children with ALL,and there clinical significance.Methods 1 52 children with ALL were enrolled in this study.Fusion genes were detected by Multiplex RT-PCR,Chromosome karyotyping was performed by conventional method and immunophenotyping was carried out by multi-color flow cytometry. Clinical data of the 1 52 patients were collected to study the clinical significance.Results In all 1 52 ALL children,9 kinds of fusion genes including TEL/AML1、BCR/ABL (P1 90 )、BCR/ABL (P21 0 )、E2A/PBX1、MLL/ENL、MLL/AF9、TLS/ERG、CBF/MYH1 1、Hox1 1 were detectable in 43 cases(29.5%).TEL/AML1 fusion gene was positive in 23 patients,among whom 21 had good responses to chemotherapy,one gave up treatment,another one showed high risk because of poor response to early treatment.Ten patients had completed chemotherapy,1 1 were CR,bone marrow relapsed in one patient after stopped chemotherapy for 1 8 mo