荧光原位杂交在诊断骨髓形态学拟诊的再生障碍性贫血中的应用  

Application of fluorescent in situ hybridization in primary diagnosis of aplastic anemia by morphology

作　　者：林晓岚[1] 陈万紫[1] 傅蔷[1] 陈加弟 黄慧芳[1] 

机构地区：[1]福建省血液病研究所、福建省血液病学重点实验室、福建医科大学附属协和医院,福州350001

出　　处：《中华医学遗传学杂志》2016年第1期5-8,共4页Chinese Journal of Medical Genetics

基　　金：国家和福建省临床重点专科建设项目;福建省卫生厅青年科研课题（2013-2-35）

摘　　要：目的探讨采用骨髓增生异常综合征（myelodysplastic syndromes，MDS）组套探针的荧光原位杂交（fluorescentin situ hybridization，FISH）检测在鉴别诊断再生障碍性贫血（aplastic anemia，AA）与MDS中的临床价值。方法应用针对MDS常见异常的组套探针，对94例形态学拟诊为AA患者的骨髓标本进行FISH检测，检出具有MDS诊断价值的遗传学异常，并比较MDS与AA两组患者临床特征的差异。结果（1）94例AA患者中11例存在遗传学异常，其中8号三体5例，20q缺失和Y缺失各1例；检出具有MDS诊断价值的遗传学异常4例：包括5q缺失3例，其中1例伴有20q缺失；7q缺失1例。（2）遗传学MDS与AA两组在临床特征，如年龄、性别、人院时血常规的中性粒细胞绝对值、血红蛋白与血小板计数等方面的差别均无统计学意义。结论通过FIsH检测发现部分形态学拟诊AA的患者存在具有MDS诊断价值的细胞遗传学异常。Objective To investigate the clinical application of fluorescent in situ hybridization （FISH） for the differential diagnosis of myelodysplastic syndromes （MDS） and aplastic anemia （AA）. Methods A FISH kit capable of detecting the chromosomal abnormalities related to MDS was used to analyze 94 patients who were suspected to have AA by bone marrow morphology. Results Cytogenetic abnormalities were detected in 11 of the 94 patients, which included trisomy 8 （5 cases）, 20q-- （1 case） and --Y （1 case）. There were 4 cases related to MDS, which included 3 cases of 5q--, in which ] case carry 20q-- at the same time, and 7q-- （1 case）. No significant difference was found between the MDS and AA groups in terms of age, sex or routine blood examination including absolute neutrophil count, hemoglobin content and platelet count. Conclusion FISH can detect certain cytogenetic abnormalities related to MDS in patients morphologically diagnosed as AA.

关 键 词：荧光原位杂交 再生障碍性贫血 骨髓增生异常综合征 8号染色体三体 

分 类 号：R556.5[医药卫生—血液循环系统疾病]