多重RT-PCR检测儿童急性淋巴细胞白血病融合基因的临床研究The clinical study on fusion genes in childhood acute lymphoblastic leukemia by multiplex RT-PCR
张坤龙;王宁玲;徐修才;杨林海;储金华;汪燕;涂松济;
摘要(Abstract):
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融合基因阳性4例,均评估为中危,化疗后3例CR中,1例因复发放弃治疗。结论 TEL/AML1表达者化疗效果良好;BCR/ABL、MLL基因重排等化疗效果差,需骨髓移植或强烈化疗。采用多重RT-PCR方法可快速同时检测儿童急性白血病29种常见融合基因,完善白血病的MICM分型、指导临床个体化治疗。
关键词(KeyWords): 儿童;急性淋巴细胞白血病;融合基因;多重RT-PCR;临床研究
基金项目(Foundation): 安徽省人口和计划生育科研课题2010(25)
作者(Author): 张坤龙;王宁玲;徐修才;杨林海;储金华;汪燕;涂松济;
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