【摘要】 目的分析慢性粒细胞白血病(CML)初诊和急变期患者染色体核型分析和间期FISH技术检测BCR/ABL融合基因的结果,探讨两种细胞遗传学方法在CML中的临床应用价值。方法 60例CML患者,包括44例初诊的患者和16例急变期患者,进行染色体R显带核型分析,同时应用间期荧光原位杂交技术(FISH),利用BCR、ABL位点特异性探针,检测患者的BCR/ABL融合基因。结果 60例CML患者中,染色体R显带核型分析57例(占95%)患者Ph(+),3例Ph(-)。FISH技术检测58例(占96.7%)患者BCR/ABL融合基因(+),2例BCR/ABL融合基因(-)。44例初诊患者中,42例Ph(+)/BCR/ABL(+),占95.5%;,1例Ph(-)/BCR/ABL(+),占2.3%;1例Ph(-)/BCR/ABL(-),占2.3%;16例急变期CML患者,15例Ph(+)/BCR/ABL(+),占93.8%;1例Ph(-)/BCR/ABL(-),占6.2%。其中8例(占50%)患者染色体R显带核型分析发现额外染色体异常,额外异常有+7,+8,t(4;22),t(1;3),t(4;11)及双Ph染色体等。结论常规R显带染色体核型分析和FISH技术在CML诊断均有重要的临床应用价值;FISH技术判断变异易位和Ph(-)/BCR/ABL(-)患者有重要意义;急变期染色体核型分析可预示病情进展。更多还原

【Abstract】 Objective To investigate the value of metaphase chromosome R-banding karyotyping and interphase FISH in the diagnosis of chronic myeloid leukmia( CML). Methods The metaphase chromosome R-banding karyotypingandinterphase FISH with BCR and ABL locus specific probes were performed in 600 cases of CML,including 44 newly diagnosed CML patients and 6 blast phase CML patients. Results Among the 60 patients,57 cases(95%) were with Ph chromosome positive and 3 cases were negative by chromosome R-banding karyotyping. FISH showed that 58 cases( 96. 7%)were with BCR / ABL fusion( +) and 2 cases were BCR / ABL(-). In 44 cases of newly diagnosed CML,there were 42 cases of Ph( +) with / BCR / ABL( +),95. 5%;1 case of Ph(-) with BCR / ABL( +),2. 3%;and 1 case of Ph(-)with BCR / ABL(-),2. 3%. In 16 cases of blast phase CML,there were 15 cases of Ph( +) with BCR / ABL( +),93. 8% and 1 case of Ph(-) with BCR / ABL(-),6. 2%;Extra chromosome changes were also demonstrated in 8 cases(50%) by chromosome R banding karyotyping. Conclusion The conventional R-banding karyotype technique and FISH have important value in the diagnosis of CML. FISH technique is of great value for confirmation of variant translocation and patients with Ph(-) with BCR / ABL(-). There is a close correlation between extra chromosome changes and the progress of CML.更多还原