染色体核型分析和荧光原位杂交技术对慢性粒细胞性白血病的诊治意义

Prognostic value of metaphase chromosome karyotyping and fluorescence in situ hybridization in patients with chronic myeloid leukemia

摘要:

目的 分析染色体核型分析和荧光原位杂交（FISH）检测方法在慢性粒细胞性白血病（CML） 中的诊治意义。方法 171 例标本应用染色体R 显带进行核型分析，218 例标本应用间期FISH 进行分析。 结果 在171 例患者中，116 例（68%）检出Ph 染色体，22 例（13%）存在其他异常核型。218 例CML 患者 标本应用FISH 进行分析，174 例（80%）检出BCR/ABL 基因。76% CML 患者BCR/ABL 融合基因产生的蛋 白类型为P210，3% CML 患者BCR/ABL 融合基因产生的蛋白类型为P210 共表达P190，0.95% CML 患者融 合基因产生的蛋白类型为P190。另外，18% CML 患者存在der（9）部分序列缺失。结论 FISH 对BCR/ABL 融合基因检出率高于染色体核型分析对Ph 的检出率。染色体核型分析可提示Ph 染色体及多种其他异常核型。 FISH 分析可提示是否存在BCR/ABL 融合基因，也可提示不同的融合蛋白类型，还可提示der（9）的部分序 列缺失与否。2 种分析方法可以多角度提示CML 患者的疾病信息，在CML 的诊治中有重要的临床价值。

Abstract:

Objective To investigate the prognostic value of metaphase chromosome karyotyping comparing with fluorescence in situ hybridization (FISH) in patients with chronic myeloid leukemia (CML). Methods The metaphase chromosome karyotyping was performed in 171 cases of CML patients and the FISH was performed in 218 specimens of CML patients. Results Among the 171 cases of CML patients, Ph chromosome was detected in 116 cases (68%) by metaphase chromosome karyotyping, and 22 cases (13%) of CML patients had other chromosome abnormalities. Among the 218 specimens of CML patients, FISH showed that 174 specimens (80%) were BCR-ABL (+). Of the CML patients, 76% were detected with the expression of P210 fusion protein, 3% were detected with the co-expression of P210 and P190, and 0.95% only expressed P190 fusion protein. Also, FISH revealed that 18% of the CML patients had partial deletion of der (9). Conclusions The detection rate of FISH is higher than that of metaphase chromosome karyotyping. Metaphase chromosome karyotyping can detect Ph chromosome and other chromosome abnormalities. FISH can detect the existence of BCR-ABL fusion gene. Also, FISH can show different types of BCR-ABL fussion proteins and partial deletion of der(9). The two mothods can be used to show more information of CML patients, and play important roles in the diagnosis of CML.