目的:探讨荧光原位杂交(FISH)技术检测慢性粒细胞白血病(CML)骨髓和外周血细胞的BCR /ABL融合基因的临床价值.方法:应用FISH 对正常对照组及CML患者骨髓和外周血细胞BCR/ ABL融合基因进行检测和分析.结果:慢性期CML 患者骨髓和外周血细胞该融合基因阳性细胞率分别为(61.9 ± 22.3)%和(68.4 ± 19.8)%,加速期为(77.2 ± 16.7)% 和(86.8 ± 12.1)%,急变期为(80.6 ± 17.5)%和(81.4 ± 18.0)%,两者细胞中BCR/ABL 基因的阳性率未见统计学差异(P>0.05),且骨髓和外周血细胞之间融合基因阳性细胞比率呈直线正相关.同时发现在完全临床缓解患者中,经伊马替尼治疗的CML 患者(71.4%)较经干扰素和羟基脲联合治疗者(10.0%)有更高的分子生物学缓解(P<0.05).结论:通过FISH 对CML 患者骨髓和(或)外周血细胞融合基因进行监测,有助于CML 的诊断、治疗及微小残留白血病的监测.%Objective To explore the clinical significance of the detection of BCR/ABL fusion gene in bone marrow and peripheral blood cells by fluorescence in situ hybridization (FISH) in patients with chronic myeloid leukemia (CML). Methods FISH technique was used to detecte BCR/ABL fusion gene in bone marrow and peripheral blood cells in healthy controls and CML patients. Results The positively expressing rates of BCR/ABL fusion gene in peripheral blood and bone marrow cells were (61.9 ± 22.3)% and (68.4 ± 19.8)% in patients with chronic phase of CML, were (77.2 ± 16.7)% and (86.8 ± 12.1)% in those with accelerating phase, and were (80.6 ± 17.5)% and (81.4 ± 18.0)% in those with blastic crisis, significant difference was not observed (P > 0.05). A significant correlation was found between the BCR/ABL positive cells in peripheral blood and in bone marrow samples. Moreover, the higher rate of complete molecular remission was achieved by treating with imatinib than with interferon and hydroxyurea during complete remission phase (P < 0.05). Conclusions Detecting BCR/ABL fusion gene in peripheral blood and bone marrow samples by FISH are beneficial to diagnosis, treatment and minimal residual disease monitor in CML.
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