BCR-ABL探针在慢性粒细胞白血病中的应用

目的用常规细胞遗传学（conventional cytogenetics,CC）和荧光原位杂交（fluorescence chromosomal in situ hybridization,FISH）技术检测Ph染色体。方法常规细胞遗传学分析（CC）,荧光原位杂交（FISH）技术。结果7例患者4例Ph染色体阴性,其中2例分别伴有t（18;22）和t（17;22）异常,其余2例为异基因造血干细胞移植后正常核型。一例培养后无中期分裂相。2例Ph染色体阳性,FISH结果bcr/abl（＋）细胞检出率分别为63.87%,84.51%,7.56%,4.0%,74.45%,67%,47%。结论常规细胞遗传学与荧光原位杂交技术相结合对CML患者诊断治疗过程中肿瘤负荷动态检测有显著意义。

Application of BCR - ABL in chronic myelogenous leukemia

Objective ： To detect Ph chromosome in CML patients by the use of conventional cytogenetics and FISH. Methods ： The bone marrow samples were collected in heparinised syringe from 5 diagnosed CML patients and transported to cytogenetic laboratory for chromosomal analysis. Conventional karyotype was prepared by direct harvesting and short -term culture. The FISH analysis was car- ried out on interphase cells of five patients to confirm the cytogenetic diagnosis. Results ： Out of 6 CML patients, 4 CML patients were 100% Philadelphia negative, 2 CML patients were carried two different acquired and apparently balanced translocations, （18; 22） and （17; 22） , 2 CML patients have done bone marrow transplantation and karyotype were normal. 1 patient cytogenetic analysis failed. 2 patients were Philadelphia positive findings. FISH was carried out in interphase cells from bone marrow preparations of four patients. The signals for BCR - ABL fusion gene was absent in Ph negative CML patients. 63.87% , 84. 51%, 7.56%, 4. 0%. Conclusion ： Conventional cytogenetics is a useful method for detection of Ph chromosome in metaphase stage of cell division. FISH can be used in interphase stage of cell division for the same purpose.