荧光原位杂交技术检测慢性粒细胞白血病微小残留病

目的 研究应用荧光原位杂交技术(FISH)检测慢性粒细胞白血病微小残留病，及用FISH技术对缓解期慢性粒细胞白血病(CML)患者外周血进行检测，评价其体内微小残留病的意义。方法 应用CG和I-FI舛对30例CML(13例给予化疗、17例移植后)患者初发和／或缓解期的骨髓及外周血标本进行分析，分别检测Ph染色体和BCR/ABL融合基因的存在。结果 对13例临床给予化疗的患者初发期的外周血和骨髓进行CG分析，Ph检出率分别为15％(2／13)、100％(13／13)。同时进行I-FISH分析，均可检出BCR/ABL融合基因。对初发期骨髓的CG、I-FISH分析结果进行统计学分析，两组无显著差异；对外周血的CG、I-FISH分析结果进行统计学分析，两组有显著差异。对其缓解期骨髓CG、I-FISH分析结果进行统计学分析，两组有显著差异；对缓解期外周血CG、I-FISH结果进行统计学分析，两组有显著差异；对缓解期外周血I-FISH和骨髓I-FISH结果进行统计学分析，两组呈显著相关。对17例移植后患者CG、I-FISH结果进行统计学分析，两组有显著差异。结论 FISH技术检测慢性粒细胞白血病微小残留病敏感性大大高于常规细胞遗传学分析；采集缓解期外周血进行荧光原位杂交分析，可作为一种方便易行的手段评价微小残留病。

Detection of minimal residual disease in patients with chronic myeloid leukemia by Fluorescence in situ hybridization

Objective To investigate the clinical significance of minimal residual disease in the peripheral blood of patients with chronic myeloid leukemia in clinical remission detected by fluorescence in situ hybridization (FISH). Methods:Ph chromosome and BCR/ABL fusion gene were analyzed by cytogenetics (CK) and FISH in the bone marrows and peripheral blood of 30 patients with CML in the stage of initial onset or remission, in which 13 patients received chemotherapy and 17 patients were given bone marrow transplantation. Results:The positivity of Ph chromosome in the peripheral blood and bone marrow of patients with initial CML was 15% (2/13) and 100% (13/13) while BCR/ABL fusion gene was identified in all the patients with initial CML. While there was no significant difference between the results obtained by analyzing bone marrows of the patients on the initial stage of CML by CG and FISH, the significant difference was observed by analyzing peripheral blood. Significant difference was also found between the results obtained by detecting peripheral blood in patients of clinical remission using CG and I-FISH. Significant correlation was found between the results obtained by detecting bone marrows and peripheral blood of the patients in clinical remission using I-FISH. There was significant difference between the results of the 17 post-BMT patients obtained by CG and I-FISH. Conclusion: The sensitivity FISH in the detection of minimal residual disease of CML is much more higher than that of the conventional cytogenetic analysis. It can be used as a clinical laboratory option to collect the peripheral blood of patients in remission and to perform FISH for the diagnosis and monitoring of minimal residual disease.