荧光原位杂交联合染色体分析提高急性白血病的诊断率

Improving the diagnosis of acute leukemia by applying FISH combined with G-banding chromosome analysis

摘要:

目的：探讨荧光原位杂交（fluorescence in situ hybridization，FISH）检测联合染色体分析提高急性白血病（acute leukemia，AL）的临床诊断率。方法：无菌抽取2011年1月到2012年12月410例初诊为AL患儿的骨髓标本，经细胞培养后，采用G显带方法进行染色体分析，其中57例患儿用FISH技术进行相应的基因检测。结果：在410例AL患儿中，包括明确诊断为急性髓系白血病（acute myeloblastic leukemia，AML）132例，急性淋巴细胞白血病（acute lymphoblastic leukemia，ALL）251例，未明确诊断27例，染色体异常检出率为41％（168/410）。在57例AL患儿检测的染色体和FISH中，染色体异常检出率为52.6%（30/57）；而FISH检测异常率为68.4％（39/57），两种方法检测的一致性为82.5%。结论：FISH方法是检测白血病患儿染色体异常的有效技术，可提高染色体异常检出率，明显优于单纯G显带染色体分析法，联合应用FISH及染色体分析对急性白血病的诊断结果更加准确、可靠，更适合于临床诊断、疗效判定。

Abstract:

Objective：To investigate the diagnosis of acute leukemia by applying FISH combined with G-banding chromosome analysis. Methods：Bone marrow specimens were collected from 410 children with acute leukemia（AL） from 2011 January to 2012 December. The cells were cultured and chromosome analysis was made by using G-banding method. Among them，57 AL cases were simultane－ously examined by FISH with their corresponding alteration genes. Results：The chromosomal abnormal rate was 41%（168/410） in 410 AL cases. Among the 57 AL cases simultaneously examined with FISH and chromosome analysis，the chromosome abnormal rate of G-banding method was 52.6%（30/57）. However，the abnormal rate of FISH was 68.4%（39/57）. The consistency of G-banding chromo－some analysis and FISH was 82.5%. Conclusion：FISH is superior to G-banding chromosome analysis when analyzing chromosome aberration in acute leukemia. Applying FISH combined with G-banding could improve the accurate and reliable results for clini－cal diagnosis of acute leukemia.