多重巢式RT—PCR技术在急性髓系白血病中的应用  

Application of multiplex reverse transcription polymerase chain reaction in acute myeloid leukemia

作　　者：赵瑾[1] 周永安[2] 苏丽萍[3] 武坚锐[2] 王恺[1] 解菊芬[1] 马莉[1] 

机构地区：[1]山西医科大学研究生处,太原030001 [2]山西省儿童医院检验科 [3]山西省肿瘤医院血液科

出　　处：《白血病．淋巴瘤》2009年第5期277-280,共4页Journal of Leukemia & Lymphoma

摘　　要：目的探讨急性髓系白血病（AML）染色体畸变所形成的融合基因与MICM分型及临床诊断、治疗、预后的关系。方法采用多重巢式RT—PCR方法对60例AML患者的融合基因联合染色体核型、免疫表型、临床资料进行研究。结果60例AML中有37例（61．67％）具有5种融合基因：MLL—AF9、TLS—ERG、CBFβ—MYH1、AML1-ETO、PML—RARα。13例患者有HOX11原癌基因活化，10例为单纯表达HOX11原癌基因活化，3例同时伴有其他融合基因表达。伴AML1-ETO、PML-RARα的31例患者中接受化疗的23例全部达完全缓解（CR），且无复发。结论基因分型是AML最精确的分型方法，可为临床化疗提供指导。采用多重巢式RT—PCR方法可快速同时检测急性白血病29种染色体畸变所形成的融合基因，完善白血病的MICM分型，指导临床个体化治疗。Objective To analyse the fusion genes derived from chromosome structural aberrations in acute myeloid leukemia（AML） and the relationship between fusion genes and the MICM classification, clinical diagnosis, chemotherapy and prognosis. Methods The expression of fusion gene in bone marrow samples was detected with multiplex RT-PCR technique and chromosome karyotypes, immunological phenotypes and clinical data were analyzed in 60 acute myeloid leukemia newly diagnosed. Results 37 cases（61.67 %） of 60 patients carried 5 kinds of fusion genes consisting of MLL-AF9, TLS-ERG, CBFβ-MYH1, AML1-ETO and PML-RARα. The activation of oncogene HOX11 was detected in 13 AML cases, three of them with other chromosome aberration simultaneously.23 cases of 31 patients carrying AML1-ETO or PML-RARα, reached complete remission（CR） after chemotherapy and without relapse. Conclusion Gene typing is the most precise classification method that can direct clinical treatment and evaluate prognosis. Multiplex RT-PCR technique, which can quickly screen 29 kinds of fusion gene derived from chromosome structural aberrations at one time, maybe helpful to improve MICM classification and guide the choice of treatment.

关 键 词：急性髓系白血病 染色体结构畸变 融合基因 多重RT—PCR 

分 类 号：R733.71[医药卫生—肿瘤] R512.62[医药卫生—临床医学]