一例伴有双ider(17q)的急性早幼粒细胞白血病的临床及实验研究  

A Case of Acute Promyelocytic Leukemia with Double ider(17q-)

作　　者：仇海荣[1] 李建勇[1] 朱雨[1] 洪鸣[1] 王蓉[1] 徐卫[1] 

机构地区：[1]南京医科大学第一附属医院,江苏省人民医院血液科,南京210029

出　　处：《中国实验血液学杂志》2007年第6期1309-1311,共3页Journal of Experimental Hematology

基　　金：江苏省"135工程"医学重点人才基金资助项目(编号RC2002044);卫生部科研基金资助项目(编号WKJ2005-2-025)

摘　　要：本研究报道一例伴有双ider(17q)特殊复杂核型异常急性早幼粒细胞白血病(APL)的临床和实验特征。对一例复发APL患者进行多参数流式细胞术免疫分型、传统细胞遗传学分析,并应用荧光原位杂交(FISH)和多重荧光原位杂交(M-FISH)两种技术进一步明确染色体异常。结果表明:该患者染色体核型分析提示为47,XY,1p-,15q+,ider(17q)×2;FISH检测同一细胞中出现5个PML-RARα融合信号;M-FISH进一步明确并证实上述结果。免疫表型检测显示高表达CD13和CD33,而CD34、HLA-DR及T、B淋巴细胞标志阴性。结论:双ider(17q)是APL中一种罕见的附加异常,联合应用FISH及M-FISH技术是确认复杂染色体异常的可靠手段。This study reported a relapsed case of acute promyelocytic leukemia with complex chromosomal aberrations of double ider（ 17q -） and explored its laboratory and clinical features. Immunophenotypic analysis was performed by multiparameter flow cytometry. Conventional cytogenetics was used for karyotyping analysis. Fluorescence in situ hybridization （FISH） and multiplex fluorescence in situ hybridization （M-FISH） were also used to identify the chromosomal aberrations. The results demonstrated that karyotype was 47, XY, lp^-, 15q ＋, ider（17q） x 2, FISH showed five fusion signals in a same interphase cell, and M-FISH confLrmed the abnormalities. Immunophenotypic analysis showed positive expression of CD13 and CD33, while no expression of CD34, HLA-DR, or T, B lymphocyte markers. In conclusion, double ider（ 17q - ） is a rare additional abnormality in APL patients ; combination of FISH with M-FISH techniques is a reliable way to identify such complicated chromosomal aberrations.

关 键 词：急性早幼粒细胞白血病 核型分析 荧光原位杂交 多重荧光原位杂交 等臂染色体 

分 类 号：R733.71[医药卫生—肿瘤]