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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 analyze the morphologic, immunological, cytogenetic and clinical features of acute leukemia (AL) with t(6;11)(q2 7;q2 3). Methods Chromosome was prepared by direct or short-term culture of bone marrow cells, and karyotype analysis was performed by R-banding technique. Two-color mixed lineage leukemia (MLL) gene probes and interphase fluorescence in situ hybridization (FISH) were used in 10 cases. AL was tested for MLL rearrangements; chromosomal studies were performed on 5 of these specimens using fluorescein isothiocyanate (FITC) and Texas Red labeled chromosome probes #6 and #11, respectively. Results The t(6;11) translocation cases were mainly found in acute myeloid leukemia (AML) M5(8/11 cases). In 11 patients with t(6;11) AL, WBC counts (10～10 0)×10 9/L were found in 9 newly diagnosed patients. Nine patients had different degrees of liver, spleen and lymph node infiltration. Nine cases were simple t(6;11), and 2 cases were associated with other abnormalities. Of the 9 cases of leukemia undergoing immunophenotyping, 4 cases of myeloid and leukemic antigens were co-expressed. Except for 1 exception, all the other patients had CD3 4 expression. The median survival of this group of t(6;11) patients was 6 months. Dual-color FISH studies in 10 patients showed MLL rearrangements, and smear analysis of 5 specimens also demonstrated a reciprocal translocation between chromosome 6 and chromosome 11. Conclusion t(6 ;11)AL has unique clinical features and its prognosis is poor. Chromosome smearing and interphase two-color FISH techniques are reliable means to detect this translocation and MLL rearrangement.