衍生9号染色体缺失对慢性髓细胞白血病的预后价值

The prognostic significance of derivative chromosome 9 deletions in chronic myeloid leukemia

目的研究慢性髓细胞白血病(CML)中衍生9号染色体[der(9)]缺失的发生率及预后意义。方法随机选取48例 CML-急变期(BC)患者,以 BCR-ABL 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 der(9)缺失。对于 der(9)缺失患者,以相同方法检测其初诊时的染色体标本,以明确 der(9)缺失是否和 Ph 易位同时发生。患者慢性期以羟基脲治疗。结果 48例CML-BC 患者中有8例(16.7%)der(9)缺失,其初诊时的染色体标本 der(9)也缺失。der(9)缺失组慢性期及总生存期分别平均为20.9和36.4个月,明显短于未缺失组(55.1和70.3个月)(P<0.05)。CML-BC 急淋变与急非淋变患者中 der(9)缺失概率无统计学意义(P>0.05)。结论 FISH技术可有效检测 der(9)缺失。der(9)缺失与 Ph 易位同时发生。具有 der(9)缺失的 CML 疾病进展较快,预后较差。羟基脲不具有逆转 CML 中 der(9)缺失的不良预后的作用。der(9)缺失不导致CML 向某一特定类型转化。

Objective To study the incidence and prognostic significance of derivative chromosome 9 [ der（9）] deletions in chronic myeloid leukemia（CMA）. Methods Dual-color dual-fusion BCR-ABL probe and fluorescence in situ hybridization （FISH） were use to detect chromosome preparations from 48 randomly selected CML patients in blast crisis （CML-BC）. If only one fusion signal was detected in interphase cells with FISH, metaphase cells were simultaneously observed to determine if there were deletions on der（9）. Chromosome preparations made at diagnosis from those with der（9） deletions in CML- BC were also assayed to determine if der （9） deletions occurred at the time of Philadelphia translocation. Patients in chronic phase were treated with hydroxyurea. Results Of the 48 CML-BC cases, 8 （ 16.7% ） showed der（9） deletions and the deletions also existed in chromosome preparations made at diagnosis. The group with der（9） deletions had significantly shorter duration of chronic phase and overall survival than the group without （P 〈 0. 05）. There was no difference in the probability of the der （9） deletions between the cases transformed to acute lymphoid leukemia and those to acute myeloid leukemia（P 〉 0. 05）. Conclusions FISH technique can effectively detect der（9） deletions. Der（9） deletions occur at the time of Philadelphia translocation. CML patients with der（9） deletions have more rapid process and poor prognosis. Hydroxyurea could not reverse the poor prognosis of der （9） deletions in CML. Der （9） deletions might not lead to transformation to specific type in CML.