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目的研究慢性髓细胞白血病急变期(CML-BC)细胞遗传学及分子遗传学改变。方法随机选取25例CML-BC病例,进行常规细胞遗传学分析,并同时以双色双融合荧光原位杂交(FISH)技术检测其染色体标本。对于FISH技术检测到的间期细胞中只有单个融合信号的标本,则观察其中期细胞,以明确是否为衍生9号染色体[der(9)]缺失。结果在随机选取的25例CML-BC病例中有5例以检测存在der(9)缺失,而R显带在25例中均未发现der(9)的缺失。der(9)缺失的病例未显示出细胞遗传学上的不稳定趋势。CML-BC中具有新遗传学异常的病例其CML-BC较短。CML-BC急淋变与急非淋变病例中der(9)缺失概率无差异。结论FISH技术可有效检测der(9)缺失。der(9)缺失与CML-BC中细胞遗传学上不稳定性无相关性,同时不导致CML向某一特定类型转化。
Objective To study the cytogenetic and molecular genetic changes of chronic myeloid leukemia (CML-BC) during the blast crisis. Methods Twenty-five cases of CML-BC were randomly selected for routine cytogenetic analysis and their chromosomal specimens were detected by dual-color double-fusion fluorescence in situ hybridization (FISH). For specimens with only a single fusion signal from the interphase cells detected by the FISH technique, observe their metaphase cells to see if they are missing on the derivative chromosome 9 [der (9)]. RESULTS: Of the 25 randomly selected CML-BC cases, 5 were detected for the presence of der (9) deletion, whereas no der (9) deletion was found in 25 cases of R banding. The cases of der (9) deletion did not show the tendency of cytogenetic instability. CML-BC has a new genetic abnormalities in the case of CML-BC is shorter. There was no difference in the probability of deletion of der (9) in CML-BC acute lymphoid and acute non-lymphoid cases. Conclusion FISH can effectively detect the deletion of der (9). The lack of der (9) is not associated with cytogenetic instability in CML-BC, and does not result in the conversion of CML to a particular type.