8号染色体四体、三体共存的t(15;17)(q22;q12)急性早幼粒细胞白血病(英文)  

Coexistence of Tetrasomy 8 and Trisomy 8 in Acute Promyelocytic Leukemia (AML-M_3) with t(15;17)(q22;q12)

作　　者：王慧萍[1] 李国霞[1] 乔振华[1] 任文英[1] 王宏伟[1] 

机构地区：[1]山西医科大学第二医院血液科,太原030001

出　　处：《中国实验血液学杂志》2004年第4期406-410,共5页Journal of Experimental Hematology

摘　　要：本研究报道首例伴有 8号染色体四体 (四体 8)、8号染色体三体 (三体 8)异常的t(15 ;17)急性早幼粒白血病 (AML M3 a) ,并探讨其形态学、细胞遗传学、分子生物学、免疫学及临床特点。用外周血及骨髓标本直接涂片观察形态学改变 ;采用骨髓细胞 2 4小时短期培养法制备染色体标本 ,RHG显带技术进行核型分析 ;以筑巢式逆转录聚合酶链反应 (nestedRT PCR)技术检测PML RARa融合基因转录本 ;以间期荧光原位杂交 (fluorescenceinsituhybridization ,FISH)技术检测 8号染色体数目异常 ;以流式细胞术检测免疫表型。结果表明 :外周血涂片早幼粒细胞占 6 5 % ,可见中晚幼粒细胞。骨髓涂片显示有核细胞增生明显活跃 ,粒系 83.6 % ,其中早幼粒细胞占 72 .4 % ,胞浆内可见大量紫红色颗粒。染色体核型分析揭示核型为 4 8,XY ,+8,+8,t(15 ;17) (q2 2 ;q12 ) [16 ]/47,XY ,+8,t(15 ;17) (q2 2 ;q12 ) [3]/46 ,XY ,t(15 ;17) (q2 2 ;q12 ) [1]。RT PCR检测PML RARa(+)。FISH检测显示具有 1,2 ,3,4 ,5 ,6个绿色荧光信号细胞的百分比分别为 0 .5 ,7,19,5 5 ,18和 0 .5。这不但证实了三体 8和四体 8克隆的存在 ,还发现存在一个较小的五体 8克隆。白血病细胞免疫表型检测显示CD13(96 .2 % )、CD33(5 5 .9% )、CYMPO(93.5 % )This study was purposed to characterize the first case of acute promyelocitic leukemia (AML-M_3a) with t(15;17) , trisomy 8 and tetrasomy 8,and explore its characteristics of morphology,cytogenetics,molecular biology,immunology and clinical features. Morphological changes of peripheral blood and bone marrow smears were observed under microscope. Chromosome specimen was prepared by 24h short-term culture of bone marrow cell,RHG-banding technique was used for karyotypic analysis. PML-RARa fusion gene transcript was detected by nested-reverse transcription-polymerase chain reaction (nested RT-PCR). Interphase fluorescence in situ hybridization (FISH) using chromosome 8 centromere specific probe were carried out to detect abnormal numbers of chromosome 8. Immunophenotypic analysis was performed by flow cytometry. The results showed that peripheral blood smear revealed 65% promyelocyte,and bone marrow aspirate was hypercellular with 72.4% promyelocyte,moderately basophilic cytoplasm with numerous azurophilic granules. Karyotype analysis demonstrated 48,XY,+8,+8,t(15;17)(q22;q12)[16]/47,XY,+8,t(15;17)(q22;q12) [3]/46,XY,t(15;17) (q22;q12) [1]. RT-PCR assay revealed PML-RARa fusion gene transcript (+). FISH showed that the percentages of cells exhibiting 1,2,3,4,5,6 green fluorescence signals were 0.5,7,19,55,18 and 0.5,respectively. This confirmed the presence of tetrasomy 8 and trisomy 8 and also revealed a low percentage of a pentasomy 8 clone. Immunophenotypes of the blasts displayed that CD13 (96.2%),CD33 (55.9%),CYMPO (93.5%) were positive. All the lymphoid markers tested were negative. The patient survival time was just 10 days. It is concluded that tetrasomy 8 is secondary cytogenetic event after t(15;17) in this case. It may be a consequence of clonal evolution of trisomy 8. t(15;17) AML-M_3 with tetrasomy 8 heralds a poor prognosis.

关 键 词：白血病 早幼粒细胞白血病 核型分析 染色体畸变 8号染色体四体 8号染色体三体 

分 类 号：R733.71[医药卫生—肿瘤]