骨髓增生异常综合征的免疫表型特征分析

 【摘要】　目的　评价免疫表型在骨髓增生异常综合征（MDS）诊断中的价值。方法　采用流式细胞术对27例MDS患者的骨髓细胞进行免疫表型检测。结果　随着MDS疾病的进展,CD+34细胞比例逐渐升高,分别为：难治性贫血／环形铁粒幼细胞性难治性贫血（RA／RAS）7.43 %,难治性贫血伴原始细胞增多（RAEB）36.81 %,难治性贫血伴原始细胞增多转化型（RAEB-T）56.45 %,3组差异有统计学意义（F＝51.197,P＝0.000）,且各组间差异均有统计学意义（P＜0.05）;髓系抗原CD33、CD13、HLA-DR表达逐渐增高,CD14、CD15抗原表达随着疾病的进展逐渐降低,3组间差异有统计学意义（P＜0.05）;B淋巴细胞表面抗原CD19、CD10的表达随着疾病进展而降低;T淋巴细胞表面抗原CD7表达随着疾病进展而增高,分别为RA／RAS 2.63 %、RAEB 10.79 % 和RAEB-T 11.00 %,3组间差异有统计学意义（F＝10.439,P＝0.001）,其中RA／RAS组与RAEB组、RAEB-T组之间差异有统计学意义（P＝0.000,P＝0.001）。结论　检测MDS患者骨髓细胞的免疫表型有助于MDS的诊断、分型和判断预后,从而为治疗提供依据。     

骨髓增生异常综合征的免疫表型特征分析

Objective To evaluate the value of immunophenotype in diagnosis of myelodysplastic syndrome (MDS).Methods The immunophenotype of bone marrow cells in 27 patients with MDS were detected by monoclonal antibody by flow cytometry.Results As the progression of the disease,CD34 positive cells gradually increased:refractory anemia/ring sideroblasts refractory anemia (RA/ AS) 7.43 %,refractory anemia with excess of blasts (RAEB) 36.81%,refractory anemia with excess of blasts transformed (RAEB-T)56.45 %,and the differences were statistically significant (P ＜0.05); the expressions of CD33+,CD13 and HLA-DR increased gradually,the expressions of CD14 and CD15 antigens gradually decreased,the difference of three groups was statistically significant (P ＜0.05),the differences between RA/RAS and RAEB-T,RAEB and RAEB-T were statistically significant (P ＜0.05); the expression of CD19 and CD10 decreased and the expression of CD7 increased (RA/RAS 2.63 %,RAEB 10.79 % and RAEB-T 11.00 %) with the progression of the disease,the difference of three groups was statistically significant (F =10.439,P ＜0.05),the differences between RA/RAS and RAEB,RA/RAS and RAEB-T were statistically significant (P ＜0.05).Conclusion The detection of immunophenotype of bone marrow cella in patients with MDS contributes to the diagnosis,classification and prognosis of MDS.     

骨髓增生异常综合征的免疫表型特征分析

Objective To evaluate the value of immunophenotype in diagnosis of myelodysplastic syndrome (MDS).Methods The immunophenotype of bone marrow cells in 27 patients with MDS were detected by monoclonal antibody by flow cytometry.Results As the progression of the disease,CD34 positive cells gradually increased:refractory anemia/ring sideroblasts refractory anemia (RA/ AS) 7.43 %,refractory anemia with excess of blasts (RAEB) 36.81%,refractory anemia with excess of blasts transformed (RAEB-T)56.45 %,and the differences were statistically significant (P ＜0.05); the expressions of CD33+,CD13 and HLA-DR increased gradually,the expressions of CD14 and CD15 antigens gradually decreased,the difference of three groups was statistically significant (P ＜0.05),the differences between RA/RAS and RAEB-T,RAEB and RAEB-T were statistically significant (P ＜0.05); the expression of CD19 and CD10 decreased and the expression of CD7 increased (RA/RAS 2.63 %,RAEB 10.79 % and RAEB-T 11.00 %) with the progression of the disease,the difference of three groups was statistically significant (F =10.439,P ＜0.05),the differences between RA/RAS and RAEB,RA/RAS and RAEB-T were statistically significant (P ＜0.05).Conclusion The detection of immunophenotype of bone marrow cella in patients with MDS contributes to the diagnosis,classification and prognosis of MDS.     

骨髓增生异常综合征细胞形态学及细胞化学特征的研究

 目的　探讨骨髓增生异常综合征（MDS）的细胞形态学及细胞化学改变,为MDS提供形态学诊断依据。方法　对53例已确诊MDS患者的骨髓涂片进行瑞特-吉姆萨染色及铁染色,外周血中性粒细胞碱性磷酸酶（NAP）染色,分析骨髓细胞形态学特点。结果　53例MDS骨髓细胞粒、红、巨核三系均有不同程度的病态造血表现,分别有35、30、33例,骨髓各系列中出现病态造血频率较高的排列次序为粒系>巨核细胞系>红系,骨髓中细胞形态学病态造血改变类型的发生率比例较高的依次为单圆核巨核细胞29例（54.7 %）、假Pelger-Hu?觕t核28例 （52.8 %）、红系巨幼样变25例（47.2 %）等。46例（86.8 %）的MDS患者NAP染色积分及阳性率减低或为正常值下限。结论　多数MDS有两系以上的病态造血改变以及NAP染色积分及阳性率改变。     

免疫表型及FCSS在骨髓增生异常综合征中的应用

目的：探讨骨髓增生异常综合征（myelodysplastic syndrome,MDS）患者免疫表型特点及预后,以及流式细胞术积分系统（flow cytometric scoring system,FCSS）在MDS中的应用.方法：回顾性分析2006年至2012年根据FAB及WHO标准诊断为MDS的1 12例患者.采用多参数流式细胞术（multiparameter flow cytometry,MFC）研究其免疫表型改变,分别对幼稚细胞群、成熟粒细胞群、单核细胞群及有核红细胞进行分析,并对这些患者进行随访及生存期分析.结果：幼稚细胞群异常表达CD7占20.54％,成熟粒细胞群CD13/CD16结构关系异常占57.14％,单核细胞群CD56异常表达占21.43％,根据FCSS进行分组,各分组之间中位总生存期（mOS）存在显著差异,并且随着FCSS积分的增加,生存期显著缩短.结论：免疫表型异常对MDS的诊断及预后评估有重要意义,FCSS标准作为一种量化的流式细胞术积分系统,可以对MDS的诊断及预后评估起重要作用.     

骨髓增生异常综合征免疫表型特征及其临床意义

 骨髓增生异常综合征（MDS）患者骨髓细胞免疫表型在整个疾病过程中呈现出紊乱及异常表达,其中一些改变对其诊断、分型、预后和治疗等方面有一定的价值。就此方面的进展作一综述。     

骨髓增生异常综合征免疫表型的研究

目的：评价免疫表型测定在骨髓增生异常综合征(MDS)诊断及分型中的价值。方法：应用单克隆抗体方法对55例MDS患者进行免疫表型检测。结果：MDS患者髓系抗原表达明显增高,FAB亚型的抗原表达呈现规律性改变,随着RA向RAEB／RAEB-t转化,较早期的髓系抗原(CD33)逐渐增加,较成熟的CD15抗原和T-淋巴细胞抗原逐渐减少;同时在RAEB/RAEB—t阶段CD34^ 细胞数明显增高;较早期的骨髓细胞表面抗原(CD38、HLA-DR)在MDS表达明显增加。结论：免疫表型的检测对MDS更精确的诊断和分型有重要意义。     

骨髓增生异常综合征110例临床及细胞形态的综合分析

综合分析我院血液科１９８０年１月￣１９９４年６月骨髓增生异常综合征的临床、细胞形态的特点，结果表明，各系列的病态造血是ＭＤＳ诊断的主要依据，而小剂量化学药物诱导分化是治疗ＭＤＳ的较好方法。     

骨髓增生异常综合征110例临床及细胞形态的综合分析

综合分析我院血液科１９８０年１月～１９９４年６月骨髓增生异常综合征的临床、细胞形态的特点，结果表明，各系列的病态造血是ＭＤＳ诊断的主要依据，而小剂量化学药物诱导分化是治疗ＭＤＳ的较好方法。     

骨髓增生异常综合征实验室检查及诊断技术的研究进展

 骨髓增生异常综合征（MDS）是一组由最初的病态造血综合征纯化而来的异质性造血干细胞恶性克隆性疾病,其诊断方法从单纯形态学标准发展为现今的多指标综合诊断,文章对MDS的实验室检查及诊断技术进展进行综述。     

骨髓增生异常综合征患者染色体核型分析

 目的　对骨髓增生异常综合征（MDS）染色体核型进行分析并结合血细胞计数、骨髓原始细胞数对其预后进行评估。方法　采用直接法、短期培养法和反带技术制备染色体,进行核型分析。结果　49例MDS患者中有22例（44.9 %）检出异常克隆。核型异常包括数目异常和结构异常,数目异常以-7,+8最常见。难治性贫血伴原始细胞增多（RAEB1和RAEB2）较难治性贫血（RA）和难治性贫血伴有环状铁粒幼细胞（RARS）检测到更高的异常核型比例。MDS染色体核型异常与原始细胞比例呈正相关。结论　染色体核型分析对MDS诊断、治疗及预后评估有重要价值。     

Cytogenetic characteristics and prognosis analysis in 231 myelodysplastic syndrome patients from a single institution

We analyzed the clinical and hematologic data of 231 patients diagnosed with de novo myelodysplastic syndrome (MDS), identified cytogenetic characteristics, and evaluated the significance of prognostic systems. The median age was 51 years and the distribution of MDS subtypes demonstrated a markedly low incidence of MDS with deletion 5q (0.9%). The proportions of World Health Organization (WHO) categories differed according to patient age group. Refractory anemia with excess blasts-2 demonstrated the most significant trend toward increased frequency with advancing age. The incidence of abnormal karyotypes in our study was comparable to a previous study (50.2%), although with different patterns. The most frequent cytogenetic abnormality was +8 (34.5% of patients with abnormality), followed by 1q+ (17.2%), 5q− (15.5%), and 20q− (12.9%). Majority of +8, 1q+, −5/5q− and −7/7q− cases combined with additional cytogenetic abnormalities (60.0%, 75.0%, 88.5% and 100%, respectively). The median survival time was 49.5 months and 13.8% patients developed acute leukemia. WHO Prognostic Scoring System (WPSS) and age group were significant factors associated with overall survival. Otherwise, International Prognostic Scoring System was not included in the model. These results demonstrated the different cytogenetic features in Korean MDS patients compared to those of Western country. In addition, WPSS and age group are applicable to our patients as an effective and reliable prognostic model.     

骨髓增生异常综合征124例细胞遗传学变化与预后的关系

 【摘要】　目的　探讨骨髓增生异常综合征（MDS）细胞遗传学的变化与预后的关系。方法　回顾性分析2005年9月至2009年10月确诊的124例骨髓增生异常综合征患者,男79例,女45例,年龄14～79岁,中位年龄 57岁。难治性贫血（RA）26例,难治性贫血伴铁粒幼细胞增多型（RAS）13例,难治性贫血伴有多系病态造血（RCMD）21例,难治性贫血伴有幼稚细胞增多Ⅰ型（RAEB-Ⅰ）29例,难治性贫血伴有幼稚细胞增多Ⅱ型（RAEB-Ⅱ）35例 。124例患者应用细胞短期培养法及热处理吉姆萨反带技术,分析20个分裂期细胞,随访至2011年12月,根据患者染色体核型情况,分析MDS各个亚型正常核型组和异常核型组,3年转化成白血病发生率（转白率）及生存率。结果　39例RA 、RAS患者中正常核型32例,异常核型7例,核型异常率17.9 %,而在85例RCMD、RAEB-Ⅰ、RAEB-Ⅱ患者中,检测出异常核型38例,核型异常率44.4 %,较RA、RAS明显增高32例,RA、RAS正常核型有2例3年后转化为白血病,7例异常核型中有1例3年后转化为急性白血病。而在38例RCMD、RAEB-Ⅰ、RAEB-Ⅱ异常核型中,随访3年,有16例转化为白血病,转白率42.1 %（16／38）,47例正常核型中有13例转化为白血病,转白率为27.6 %（13／47）,两组比较差异有统计学意义（P＜0.05）,RCMD、RAEB-Ⅰ、RAEB-Ⅱ组转白率较RA、RAS明显增高,尤其在核型异常组转白率高达42.1 %。结论　MDS伴有异常核型者,转白率高,治疗效果差,宜早期行造血干细胞移植治疗。     

Epidemiological data from the registry of patients with myelodysplastic syndrome in a single hospital center of Romania

We present the first Romanian study on the epidemiological characteristics of MDS, based on the data existing in Fundeni Clinical Institute, Hematological Department, Bucharest. The files at diagnosis of the adult patients with primary MDS admitted during the period 1982–2005, recorded in the registration forms provided by the MDS Foundation (USA), represented the primary database. This study indicates an increase in the number of new MDS cases over the period of time investigated. Also, a 10 years lower median age of the patients, a noticeable proportion of young patients and a low proportion of patients ≥81years have been found, which situates our findings in the middle between the Eastern and Western epidemiological reported data on MDS.     

应用流式细胞术评分诊断骨髓增生异常综合征

目的 采用流式细胞术（FCM）评分对骨髓增生异常综合征（MDS）与非MDS（主要为非克隆性血细胞减少患者）患者进行鉴别.方法 应用FCM四参数（CD34＋髓系原始细胞占所有有核细胞百分比、B系祖细胞占CD34＋细胞百分比、髓系原始细胞CD45表达水平、成熟粒细胞SSC峰通道值）对50例MDS患者和20例非MDS患者进行评分,每个参数异常时计1分,评分≥2分时诊断为MDS.结果与非MDS对照组比较,MDS患者CD34＋髓系原始细胞比例增高,B系祖细胞比例降低,成熟粒细胞SSC水平降低,差异有统计学意义（P＜0.05）;而CD34＋髓系原始细胞CD45表达水平差异无统计学意义（P=0.06）.MDS组FCM评分高于非MDS组,差异有统计学意义（P＜ 0.001）.45例患者用此方法正确诊断为MDS,敏感度为90％;1例患者为假阳性,特异度为95％.结论 采用FCM四参数评分可帮助诊断MDS,可行性好,简单方便.     

Flow cytometric scoring system as a diagnostic and prognostic tool in myelodysplastic syndromes

The aim of this study is to validate the clinical utility of the flow cytometric scoring system (FCSS), quantifying phenotypic aberrancies in the myelomonocytic lineages, in the diagnosis and prognosis for conventionally treated myelodysplastic syndromes (MDS) patients. The bone marrow samples from 56 consecutive newly diagnosed MDS patients were characterized by the FCSS and compared with findings in 27 non-MDS cytopenic patients. The FCSS scores were significantly higher in patients with MDS than those in the non-MDS control. A flow score of 2 or more allowed for a specificity of 100% with 75% sensitivity in distinguishing these two groups. The FCSS scores correlated directly with validated prognostic systems including WHO classification, International Prognostic Scoring System (IPSS), WHO-adjusted prognostic scoring system (WPSS) and transfusion dependency. The median survival of conventionally treated MDS patients was directly related to FCSS group; severe: 6 months; moderate: 19 months and normal/mild: not reached. The multivariate analyses suggested the FCSS risk categories were an independent prognostic factor after adjustment for sex, age (above or below 70 years), IPSS or WPSS risk categories. These results confirm that quantifying aberrancies in the myelomonocytic lineage by FCSS is useful in MDS diagnosis and extends the prognostic utility for conventionally treated/untreated patients, especially among patients classified within the refractory cytopenia with multilineage dysplasia (RCMD) subgroup.     

流式细胞学评分系统的建立及其在骨髓增生异常综合征诊断中的应用

 目的　建立适用于中国人群的MDS诊断流式细胞学评分系统,以提高MDS早期诊断的准确性。方法　运用多色流式细胞术检测确诊MDS组和对照组CD+34细胞和各分化阶段细胞免疫表型的异常,建立MDS诊断的流式细胞学评分系统;应用该评分系统对37例临床疑似MDS患者进行评分。结果　筛选出12个对MDS诊断有贡献的干细胞或分化阶段细胞抗原表达异常作为MDS流式细胞学诊断的积分指标,根据其在MDS中出现的特异性分别给予1分和0.5分,建立了MDS诊断的流式细胞学评分系统;37例试验组中确诊为MDS的患者评分均＞2分,确诊为非MDS的患者评分均＜5分,当以积3分为截断值时,诊断MDS的敏感度和特异度可分别达到94.1%和80.1%。结论　建立流式细胞学评分系统能有效地辅助MDS的早期诊断和准确诊断。     

骨髓增生异常综合征患者染色体核型分析

目的 对骨髓增生异常综合征(MDS)染色体核型进行分析并结合血细胞计数、骨髓原始细胞数对其预后进行评估.方法 采用直接法、短期培养法和反带技术制备染色体,进行核型分析.结果 49例MDS患者中有22例(44.9%)检出异常克隆.核型异常包括数日异常和结构异常,数目异常以-7,+8最常见.难治性贫血伴原始细胞增多(RAEB1和RAEB2)较难治性贫血(RA)和难治性贫血伴有环状铁粒幼细胞(RARS)检测到更高的异常核型比例.MDS染色体核型异常与原始细胞比例呈正相关.结论 染色体核型分析对MDS诊断、治疗及预后评估有重要价值.