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具有核内陷杯状细胞形态学表现的AML-M1/M2患者的临床和实验室特点分析

Analysis of Clinical and Laboratory Features of Patients with Acute Myeloid Leukemia(AML)-M1/M2 with Cuplike Nuclei Morphology
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摘要 目的:分析具有核内陷杯状细胞形态学表现的急性髓细胞白血病(M1/M2)患者的临床和实验室特点。方法:选择本院2009年12月至2016年12月初治170例M1/M2患者,取患者骨髓血进行形态学及流式细胞术检测;应用RHG显带技术进行细胞遗传学分析;应用测序方法检测基因突变。结果:170例初诊AML患者中,67例(39.4%)患者为M1,103例(60.6%)患者为M2;43例(25.3%)患者骨髓和外周血中发现杯状细胞阳性,其中M1患者有38例(88.4%),M2患者为5例(11.6%),M1患者的杯状细胞阳性率明显高于M2患者(P<0.001)。此外,杯状细胞阳性组患者与阴性组患者男女性别没有明显差异(P>0.05),但杯状细胞阳性组患者年龄较大(P<0.01)且杯状细胞阳性组患者POX阳性比例(P<0.05)及积分(P=0.049)均明显高于阴性组。免疫表型分析显示,杯状细胞阳性组缺乏CD34(P<0.01)和HLA-DR(P<0.01)的表达,其他免疫标记没有明显统计学差异。在152例可供遗传学分析的患者中,核型分析显示94例(61.8%)为正常核型,杯状细胞阳性组的正常核型的发生率(83.8%)较对照组(54.8%)明显增高,但无明显的统计学差异。分子生物学分析显示,杯状细胞阳性组患者的NPM1、FLT3的突变率远高于对照组(P<0.01);杯状细胞的比例与突变类型没有明显相关性,但是在FLT3+组双叶核内陷的发生率高于单NPM1突变组(P<0.01)。结论:杯状核细胞阳性的AML有着特征性的形态学改变、典型的免疫表型(CD34-和HLA-DR-)。 Objective: To analyze the clinical and laboratory features of acute myeloid leukemia( AML) with cuplike nuclei morphology. Methods: One hundred and seventy patients diagnosed with AML( M1 and M2) between December2009 and December 2016 were included in the study. Bone marrow smears were prepared for morphological analysis,the immunophenotype was analyzed by flow cytometry and the RHG-banding was for conventional cytogenetic assay( CCA),gene mutation was detected by sequencing. Results: Among the 170 AML patients,67 were diagnosed as M1 and 103 patients was diagnosed as M2,43 patients( 25. 3%) defined as cuplike nuclei-positive,among them 38 patients( 88. 4%) were M1 while only 5 patients( 11. 6%) were with M2( P〈0. 01). No significant value about sex( P〈0. 05) between cuplike nuclei-positive and-negative group,while older patients were found in cuplike nuclei-positive group( P〈0. 05). Higher peroxydas( POX) ratio( P〈0. 05) and integration( P〈0. 05) were found in cuplike nucleipositive group. Furthermore,the patients with cuplike nuclei-positive lack the expressions of CD34( P〈0. 01) and HLA-DR( P〈0. 01) while no other immunophenotype markers were found. Among the 152 patients( 89. 4%) for genetic analysis,83. 8% karyotype of the cuplike nuclei-positive group were normal while only 54. 8 of negative group was normal by CCA. Molecular biology analysis showed that the patients in cuplike nuclei-positive group have significantly higher NMP1( P〈0. 01) and FLT3( P〈0. 01) mutations as compared with the negative group.Furthermore,the relationship of the ratio of cuplike nuclei and the type of gene mutations were investigated,and no significant associations were found. However,it was found that the patients with FLT3 mutation displayed more biological nuclear invagination than the patients with NPM1 mutations( P〈0. 01). Conclusion: AML patients with positive cuplike nuclei have characteristic morphological changes,typical immunophenotype with HLA-DR-and CD34-,normal karyotype accompanied by NPM1 and FLT3 mutations.
作者 王琰 乔纯 郭睿 王慧 杨慧 仇海荣 吴雨洁 张建富 王蓉 钱思轩 李建勇 WANG Yan;QIAO Chun;GUO Rui;WANG Hui;YANG Hui;QIU Hai-Rong;WU Yu-Jie;ZHANG Jian-Fu;WANG Rong;QIAN Si-Xuan;LI Jian-Yong(Department of Hematology,The First Affiliated Hospital of Nanjing Medical University,Jiangsu Provincial People Hospital,Nanjing 210029,Jiangsu Province,China)
出处 《中国实验血液学杂志》 CAS CSCD 北大核心 2018年第4期958-963,共6页 Journal of Experimental Hematology
关键词 急性髓系白血病 杯状细胞 NPM1突变 FLT3突变 acute myeloid leukemia cuplike nuclei cell NPM1 mutation FLT3 mutation
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