九例近四倍体/四倍体核型骨髓增生异常综合征患者的遗传学及临床特征分析  

Analysis of genetic and clinical characteristics of nine cases of myelodysplastic syndrome with near tetraploid/tetraploidy karyotype

作　　者：吴娟 林慧洁 陈成璇[2] 罗悦 戴炜 林晓岚[2] 陈万紫[2] 傅蔷[2] 原琴 陈加弟 Wu Juan;Lin Huijie;Chen Chengxuan;Luo Yue;Dai Wei;Lin Xiaolan;Chen Wanzi;Fu Qiang;Yuan Qin;Chen Jiadi(Department of Clinical Laboratory,School of Medical Technology and Engineering,Fujian Medical University,Fuzhou,Fujian 350004,China;Fujian Institute of Hematology,Fujian Provincial Key Laboratory of Hematology,Fujian Medical University Union Hospital,Fuzhou,Fujian 350001,China)

机构地区：[1]福建医科大学医学技术与工程学院医学检验系,福州350004 [2]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》2020年第12期1336-1339,共4页Chinese Journal of Medical Genetics

基　　金：福建医科大学启航基金一般项目(2018QH1017,2018QH1039);福建省自然科学基金(2019J01322)

摘　　要：目的探讨近四倍体/四倍体核型(near-tetraploidy/tetraploidy karyotype,NT/T)骨髓增生异常综合征(myelodysplastic syndrome,MDS)患者的遗传学及临床特征。方法对1576例初诊MDS患者进行染色体核型分析,筛选出细胞核型为NT/T的MDS患者,后用荧光原位杂交技术检测四倍体细胞比例,分析患者骨髓细胞形态学和治疗情况。结果NT/T在MDS患者中较罕见,在1576例初诊MDS病例中筛出9例NT/T-MDS,检出率为0.57%。9例NT/T-MDS患者中,8例NT/T-MDS不携带染色体结构异常,1例NT/T-MDS为复杂核型。NT/T-MDS患者骨髓细胞除典型MDS细胞学形态外,还呈现出原始细胞胞体较大、胞浆丰富、部分细胞呈双细胞核、细胞核轮廓不规则等多倍体细胞特点。1例NT/T-MDS患者放弃治疗,另8例NT/T-MDS患者经过治疗,1例患者完全缓解,1例部分缓解,3例患者未缓解,3例向急性髓系白血病转化。结论NT/T-MDS较罕见,具有独特的细胞形态学特征;一般情况下,NT/T-MDS患者预后较差,但不能将NT/T简单的划为高危组,要视其是否携带有特殊染色体结构异常而定。Objective To explore the genetic and clinical characteristics of near-tetraploidy/tetraploidy karyotype(NT/T)in patients with myelodysplastic syndrome(MDS).Methods Cytogenetic findings of 1576 inpatients with primary MDS were retrospective analyzed,among which 9 were diagnosed with NT/T.Clinical data including gender,age,morphology,genetic feature and prognosis were analyzed.Results The prevalence of MDS patients with NT/T(NT/T-MDS)among all cases was 0.57%.Karyotyping analysis suggested that eight MDS patients had sole NT/T,while the remainder one had a complex karyotype.In addition to the typical morphology of MDS,NT/T-MDS had unique morphology including huge blast,double-nuclear cell and irregular nuclear membrane.One NT/T-MDS patient gave up therapy,and the remaining eight underwent the first course of treatment,albeit with poor prognosis.Only one patient had complete remission,one had partial remission,three had no remission;and three had converted to acute myeloid leukemia.Conclusion NT/T-MDS is rare and has unique morphology.Generally,NT/T-MDS patients have poor prognosis.However,NT/T cannot be simply classified as high-risk group,but with consideration whether they have affected particular chromosomal structures as well as other clinical data.

关 键 词：骨髓增生异常综合征 近四倍体/四倍体 形态学 遗传学 

分 类 号：R551.3[医药卫生—血液循环系统疾病]