应用LSI9q34探针及ES/DCDF探针检测慢性粒细胞白血病患者der(9)缺失的研究

目的 研究慢性粒细胞性白血病(CML)患者衍生9号染色体der(9)]部分序列缺失情况,探讨LSI 9q34探针在检测der(9)缺失中的联合应用价值.方法 对52例CML患者采用不加任何刺激剂的骨髓进行24 h短期培养法制备染色体,吉姆萨显带进行核型分析.应用ES/DCDF探针及LSI 9q34探针对骨髓间期细胞进行荧光原位杂交,并检测der(9)部分序列缺失.结果 52例中经ES/DCDF探针检测全部为ber-abl融合基因阳性,其中12例患者伴有der(9)部分缺失,占23.0%,经LSI 9q34探针检测有11例患者伴有der(9)部分缺失.结论 LSI9q34探针在判断CML患者是否伴有der(9)缺失方面有较好的特异性.伴有缺失的患者疾病进展较快,预后较差,甲磺酸依马替尼治疗不能完全逆转其负性作用,建议所有bcr-abl融合基因阳性的CML患者均应行 LSI 9q34探针检测,以指导临床治疗.

Study on the deletion of derivative chromosome 9 in chronic myeloid leukemia patients with extra-signal or dual colour/dual fusion probe, and local-specific inspector 9q34 probe

Objective To study the frequency of the derivative chromosome 9 der(9)] deletion among patients with chronic myeloid leukemia (CML), and explore the application value of local-specific inspector (LSI) 9q34 probe in detect the der (9) deletion. Methods Cytogenetic analysis was performed by 24 h unstimulated culture, GTG banding and karyotype. Dual colour/dual fusion or extra signal(ES) DNA probe was used to perform interphase-FISH for the detection of bcr-abl fusion gene in 52 patients with CML. LSI 9q34 DNA probe was used to detect der(9) deletion. Results FISH results showed bcr-abl fusion gene existed in all 52 patients with CML. der(9) deletion was detected in 12 patients with ES/DCDF probe, but only in 11 patients with LSI 9q34 probe. Conclusion It's more efficient in detection of der(9) deletion with LSI 9q34 probe. Deletion of der(9) might be a poor prognostic factor for CML patients, and LSI 9q34 probe should be used in all the CML patients with positive bcr-abl fusion gene.