双色双融合间期荧光原位杂交探针检测慢性髓系白血病伊马替尼治疗患者的肿瘤负荷

Dual-color/dual-fusion interphase fluorescence in situ hybridization probe for monitoring tumor load during imatinib therapy for chronic myeloid leukemia

目的研究双色双融合探针间期荧光原位杂交技术(D-FISH)检测慢性髓系白血病(CML)伊马替尼治疗过程中肿瘤负荷的灵敏度、特异性。方法应用D-FISH探针对24例伊马替尼治疗获完全细胞遗传学缓解的CML患者骨髓内残留肿瘤细胞负荷进行检测,并与应用单融合探针FISH(S-FISH)和逆转录-聚合酶链反应(RT-PCR)检测结果的进行比较。结果与S-FISH相比,D-FISH较具有更高的灵敏度及特异性。正常对照组中D-FISH的正常分界值为0.73%,而S-FISH为6.24%,差异具有显著性;在24例伊马替尼治疗后患者中,S-FISH检测到7例(29.2%)阳性,而D-FISH检测到13例(54.2%)阳性,且结果与RT-PCR结果高度相关。结论D-FISH由于具有较低的假阳性率与假阴性率,可较灵敏、特异地监测CML伊马替尼治疗过程中肿瘤细胞负荷的变化。

Objective To evaluate the sensitivity and specificity of dual-color and dual-fusion interphase fluorescence in situ hybridization （D-FISH） in determining the tumor load in patients with chronic myeloid leukemia （CML） receiving imatinib therapy. Methods The BCR-ABL fusion gene was detected by FISH in 24 cases of chronic myeloid leukemia treated with imatinib. The sensitivity and specificity of D-FISH were compared with those of single-fusion FISH （S-FISH） and RT-PCR. Results D-FISH was more sensitive and specific than S-FISH. In normal control subjects, the cutoff rates of D-FISH and S-FISH were 0.73% and 6.24%, respectively, showing a significant difference between them. In 24 CML cases receiving imatinib treatment, the positivity rates of S-FISH and D-FISH were 7/24 （29.2%） and 13/24 （54.2%）, respectively. The results of D-FISH had a high correlation to that of RT-PCR. Conclusion With lower false positive and false negative results, D-FISH can be used as a sensitive and specific method for monitoring the changes of the tumor load in CML patients during imatinib treatment.