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为了探讨慢性髓细胞白血病急变期(CML-BC)核型变化规律及意义,应用R显带技术对119例CML-BC患者的核型资料进行分析,并在其中随机选出28例以荧光原位杂交法(FISH)检测衍生9号染色体[der(9)]是否缺失。结果表明124例核型检查中Ph阴性11例(8.9%),Ph阳性113例(91.1%),其中典型易位104例(83.9%),单纯变异易位4例(3.2%),复杂变异易位5例(4.0%);Ph阴性CML-BC中72.6%伴有附加染色体异常,主要类型是i(17q)、+14,Ph阳性者72.3%伴有附加染色体异常,主要类型是+Ph、+8、i(17q);Ph阴性CML-BC急变时间为2-66月,平均29.0月,Ph阳性者急变时间为1-127月,平均34.2月,两组比较无统计学差异(P>0.05);FISH检测发现5例(5/28,17.9%)der(9)缺失。结论慢性髓细胞白血病急变期附加染色体异常多见,FISH技术可有效检测der(9)缺失。
In order to investigate the regularity and significance of karyotype changes in chronic myeloid leukemia (CML-BC), the karyotype data of 119 patients with CML-BC were analyzed by R-banding technique. Twenty-eight patients were randomly selected with fluorogenic The hybridization assay (FISH) detects whether the derivative of chromosome 9 [der (9)] is missing. The results showed that Ph negative in 11 cases (8.9%) and Ph positive in 113 cases (91.1%) were found in 124 karyotypes, including 104 (83.9%) typical translocations, 4 simple aberration translocation (3.2% (17.8%) were found in 72.6% of Ph-negative CML-BC patients with extra chromosomal abnormalities. The main type was + Ph (P <0.05). The acute phase of Ph-positive CML-BC was from January to December, with an average of 34.2 months. There was no significant difference between the two groups > 0.05). FISH test found that 5 cases (5 / 28,17.9%) der (9) were deleted. Conclusion Extra-chromosomal abnormalities in chronic myeloid leukemia are common. FISH can effectively detect the deletion of der (9).