二例伴有i(17q-)的急性早幼粒细胞白血病的临床和实验研究  

Clinical and laboratory research of two acute promyelocytic leukemia patients with isochromosome 17q-anomaly

作　　者：肖继刚[1] 刘旭平[1] 李承文[1] 代芸[1] 秦爽[1] 贡金英[1] 徐方运[1] 黄琪[1] 王建祥[1] 刘世和[1] 

机构地区：[1]中国医学科学院中国协和医科大学血液学研究所血液病医院,天津300020

出　　处：《白血病．淋巴瘤》2006年第3期164-166,共3页Journal of Leukemia & Lymphoma

基　　金：天津市科技攻关计划(05YESZSF02400)

摘　　要：目的探讨伴有i(17q-)的急性早幼粒细胞白血病(APL)的临床和实验室特征。方法骨髓细胞经24h培养后按常规方法制备染色体,用R显带技术进行核型分析,并用PML/RARα和HER-2探针进行荧光原位杂交(FISH)检测。用反转录-聚合酶链反应(RT-PCR)检测PML/RARα融合基因。结果2例的临床和血液学改变符合AML-M3诊断。染色体核型分析揭示2例患者染色体均存在t(15;17)易位及i(17q-),并通过FISH检测加以证实。2例RT-PCR均检测到了PML/RARα融合基因。结论i(17q-)是APL中一种少见的染色体附加异常,其预后意义有待进一步讨论。Objective To explore the clinical and laboratory characteristics of two acute promyelocytic leukemia （APL）patients with isochromosome 17q-anomaly. Methods Bone marrow cell chromosome preparations were made with short-term culture. Karyotype analysis was performed by R-banding technique and dual-color fluorescence in situ hybridization （FISH） by using PMURARct and HER-2 probes. Using the reverse transcriptase polymerase chain reaction（RT-PCR） detect PML/RARα fusion. Results The clinical and hematological findings were comparable with diagnosis of APL. Karyotype analysis showed that both patients had t（15;17） and isochromosome 17q- anomaly, and that proved by FISH. Furthermore, PMI./RARet fusion were detected by RT-PCR in both patients. Conclusion i（17q-） is a rare additional karyotype abnormality in APL, the prognostic implication needs further research.

关 键 词：急性早幼粒细胞白血病 染色体易位i(17q-) 临床特征 实验室特征 

分 类 号：R733.71[医药卫生—肿瘤]