荧光原位杂交技术对骨髓增生异常综合征7号染色体核型异常的诊断价值

Abnormalities in Chromosome 7 in Myelodysplastic Syndromes Diagnosed by Fluorescence in situ Hybridization

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 .