11例伴t(6;11)(q27;q23)急性白血病的临床和实验研究  

A clinical and laboratory study of 11 cases of t(6;11)(q27;q23) acute leukemia

作　　者：潘金兰[1] 薛永权[1] 姜海燕[2] 李天宇[3] 王勇[1] 钱军[4] 吴亚芳[1] 吴天勤 

机构地区：[1]苏州大学第一附属医院,江苏省血液病研究所,215006 [2]苏州大学生命科学院 [3]无锡市第一人民医院 [4]江苏大学附属人民医院 [5]解放军第100医院

出　　处：《中华内科杂志》2004年第12期920-923,共4页Chinese Journal of Internal Medicine

基　　金：江苏省高校自然科学研究计划项目基金资助项目 (0 2KJB3 2 0 0 1) ;苏州市科技项目基金资助项目(ZS0 2 0 1)

摘　　要：目的　分析伴有t(6 ;11) (q2 7;q2 3)急性白血病 (AL)的形态学、免疫学、细胞遗传学和临床特点。方法　采用骨髓细胞直接法或短期培养法制备染色体 ,用R显带技术进行核型分析 ;采用双色混合谱系白血病 (MLL)基因探针和间期荧光原位杂交 (FISH)技术 ,对其中 10例AL进行MLL重排检测 ;分别用异硫氰酸荧光素 (FITC)和得克萨斯红 (Texasred)标记的 6号和 11号全染色体涂抹探针对其中 5例标本进行染色体研究。结果　t(6 ;11)易位病例主要见于急性髓系白血病(AML) M5(8/ 11例 )。 11例t(6 ;11)AL中 9例初诊时WBC计数 (10～ 10 0 )× 10 9/L之间 ,9例有不同程度的肝、脾、淋巴结浸润。 9例为单纯t(6 ;11) ,2例伴有其他异常。进行免疫表型分析的 9例白血病中 4例髓系和淋系抗原共表达 ,除 1例外 ,其余患者均有CD3 4 表达。本组t(6 ;11)患者中位生存期为 6个月。 10例患者的双色FISH研究显示均有MLL重排 ,其中 5例标本的涂抹分析也证实 6号和 11号染色体之间发生了相互易位。结论　t(6 ;11)AL有着独特的临床特点 ,其预后不良。染色体涂抹和间期双色FISH技术是检测该易位和MLL重排的可靠手段。Objective To analyse the morphologic, immunophenotypic, cytogenetic and clinical features of acute leukemia with t(6;11)(q27;q23). Methods Cytogenetic examination of bone marrow cells was performed with direct method or 24 h culture method. R bands by heating using Giemsa(RHG) banding technique was used for karyotype analysis. mixed lineage leukemia (MLL) rearrangement was detected by interphase fluorescence in situ hybridization (FISH) using dual color MLL probe in 10 cases. Chromosome painting was performed by using whole chromosome paints 6 and 11 in 5 cases. Results t(6;11)(q27;q23) was predominantly found in acute myeloid leukemia(AML) M 5(8/11 cases). Increased WBC between 10 and 100×10 9/L was found in 9 cases. Liver, spleen and/or lymph node infiltrations were found in 9 cases. t(6;11) as a sole abnormality was detected in 9 cases, However, additional aberrations besides t(6;11) were detected in the other two cases. Dual color FISH analysis detected the MLL rearrangment in 10 cases. A reciprocal translocation between 6 and 11 was proved by chromosome painting technique in 5 cases. The immunophenotypical analysis of leukemia cells showed co expressed myeloid and lymphocyte antigens in 4 cases. Blast cells were positive for CD 34 antigen in 8 patients except case 8. Median survival was 6 months in this serises. Conclusions t(6;11) acute leukemia had unique clinical features and a poor prognosis. Chromosome painting technique and dual color FISH are reliable tools for detecting this translocation and MLL rearrangment respectively.

关 键 词：急性白血病 实验研究 染色体畸变 易位 

分 类 号：R733.71[医药卫生—肿瘤]