伴有dic(7;9)的急性淋巴细胞白血病的临床和实验研究

目的分析具有d ic(7;9)的急性淋巴细胞白血病(ALL)的临床和实验室特点。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bcr/ab l双色探针和间期荧光原位杂交(FISH)技术对其中6例ALL患者进行bcr/ab l重排检测;分别应用绿色荧光标记的7号和红色荧光标记的9号着丝粒探针,以及由生物素及地高辛分别标记的7号和9号全染色体涂抹探针,对6例ALL患者进行FISH和染色体涂抹分析。结果d ic(7;9)ALL占同期ALL的0.88%;7例患者中2例为单纯d ic(7;9),4例同时伴有t(9;22)和其他染色体异常(初诊白细胞计数>100×109/L),1例伴有其他染色体异常而无t(9;22)(初诊白细胞计数<100×109/L);6例患者有不同程度的肝、脾和淋巴结肿大;进行免疫表型分析的6例患者中5例为B系ALL;双色FISH检则结果示6例患者中3例为bcr/ab l重排阳性,且6例患者衍生染色体着丝粒均为7号和9号着丝粒融合而成,染色体涂抹分析也证实7号和9号染色体之间发生了易位。结论d ic(7;9)是ALL中一种较少见的再现性异常,并有独特的临床和实验室特点。

Clinical and experimental study of 7 cases of acute lymphoblastic leukemia with dic(7 ;9)(p11 ;p11)

OBJECTIVE: To investigate the laboratory and clinical features of 7 cases of acute lymphoblastic leukemia (ALL) with dic(7;9) (pll;pll). METHODS: Cytogenetic examination of bone marrow cells was performed by direct method or short-term culture method. R banding techique was used for karyotype analysis. bcr/abl fusion gene was detected by interphase FISH using dual-color bcr/abl probe in 6 cases. FISH using chromosome 7-specific alpha-satellite DNA probe and chromosome 9-specific alpha-satellite DNA probe and chromosome painting using whole chromosome 7 and 9 paints probes were performed respectively. RESULTS: Seven (0.88%) of 800 ALL patients were found to have dic(7;9) abnormality. Among them, dic(7;9) was the sole abnormality in 2 cases, t(9;22), other additional aberrations besides dic(7;9) in 4 cases and dic (7;9) with other abnormalities but no t(9;22) in one case. Hyperleukocytosis (> 100 x 10(9)/L) was found in 4 cases with dic(7;9) and t(9;22), and patients without t(9;22) had WBC < 100 x 10(9)/L. Enlargement of liver, spleen and/or lymph nodes were found in 6 cases. Immunophenotyping showed that 5/6 cases of dic (7;9) ALL were of B lineage. Dual-color FISH detected bcr/abl rearrangment in 3/6 cases and confirmed that the centromere of the derivative chromosome was originated from both chromosomes 7 and 9. A reciprocal translocation between chromosomes 7 and 9 was proved by chromosome painting. CONCLUSION: dic(7;9) was a rare, but recurrent chromosome abnormality in ALL and had some clinical and laboratory features.