慢性髓细胞白血病急变期细胞遗传学及分子遗传学研究

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。

A study on cytogenetics and molecular genetics in chronic myeloid leukemia blast crisis

Objective To study the changes of cytogenetics and molecular genetics in chronic myeloid leukemia blast crisis(CML-BC).Methods Cytogenetic preparantions from 25 cases in CML-BC selected randomly were assayed with conventional cytogenetic analysis and dual color dual fusion fluorescence in situ hybridization(FISH) technique.If there was only one fusion signal detected by FISH technique in interphase cells,metaphase cells were simultaneously observed to determine if there were the deletions on the der(9).Results Of 25 cases selected randomly,5 with der(9) deletions were detected by FISH technique,while R banding revealed no der(9) deletions in all 25 cases.The cases with der(9) deletions were demonstrated no trend of instability in cytogenetics.Those with new cytogenetic abnormalities in CML-BC had shorter duration of CML-BC.There was no significant difference in the propability of the der(9) deletions between the cases transforming to acute lymphoid leukemia and those transforming to acute non-lymphoid leukemia.Conclusion FISH could effectively show the der(9) deletions,and the der(9) deletions might not lead to instability in cytogenetics of CML-BC and transformation to specific type in CML.