目的探讨荧光原位杂交技术（ FISH ）对骨髓增生异常综合征（ MDS ）7号染色体核型异常的诊断价值。方法84例MDS患者骨髓标本，分别采用间期FISH和常规染色体核型分析（ CCA ）法对染色体核型进行分析，比较两种分析法在7号染色体核型异常的检出率。结果84例MDS患者中FISH联合CCA共检出35例染色体核型异常，占41．7％（35/84），其中，仅染色体数目异常9例，占25．7％（9/35），以＋8多见；仅染色体结构异常13例占37．1％（13/35），以7q-、5q-、20q-多见；染色体数目和结构异常同时存在13例占37．1％（13/35）。最常见的核型异常为＋8染色体核型异常11例，其次为复杂核型15例，7号染色体异常9例，5q-异常5例，20q-异常5例，Y染色体异常2例。 FISH方法检测出7号染色体核型异常9例占10．7％（9/84），而CCA法检出7号染色体核型异常者1例占1．2％（1/84）（ P＜0．01）。结论 FISH技术检测MDS患者7号染色体核型异常的检出率高，但是FISH不能替代CCA。%Objective To investigate the significance of fluorescence in situ hybridization ( FISH) applied to the diagnosis of abnormalities in chromosome 7 in myelodysplastic syndromes ( MDS ) .Methods The bone marrow samples collected from 84 MDS patients were analyzed for chromosomal karyotypes by interphase FISH and convention -al cytogenetic analysis(CCA),respectively.A comparison was done for the detection relevance ratio of abnormalities in chromosome 7 between FISH and CCA .Results Among 84 MDS patients,35 with chromosome aberrations were accounted for 41 .7%( 35/84 ) , in which 9 cases of numerical abnormality of chromosomes , accounted for 25 .7%(9/35),were dominated by +8;Thirteen cases of chromosomal structural abnormality ,accounted for 37.1%(13/35),were dominated by 7q-,5q-and 20q-;There were 13 cases of structural and numerical abnormality ,accoun-ted for 37.1%(13/35).The most common chromosomal aberration was abnormality in chromosome +8(11 cases), the follows as complex chromosomal aberrations ( 15 cases ) , abnormality in chromosome 7 ( 9 cases ) , abnormality in chromosome 5q-(5 cases) ,abnormality in chromosome 20q-(5 cases),abnormality in chromosome Y (2 cases). Nine cases of abnormality in chromosome 7,accounted for 10.7%(9/84),were confirmed by FISH,while only 1 case of abnormality in chromosome 7,accounted for 1.2% (1/84),was confirmed by CCA (P <0.01).Conclusion FISH has a higher detection relevance ratio of abnormality in chromosome 7 in MDS patients compared with CCA ,but FISH can′t take the place of CCA .
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