骨髓增生异常综合征的诊断与分型

骨髓增生异常综合征（myelodysplastic symdrome,MDS）是一组克隆性造血干细胞疾病,其特征是血细胞减少,髓系细胞1系或多系发育异常,无效造血,以及演变为急性髓系白血病（acute myeloid leukemia,AML）的风险增高。MDS的主要病理生理本质是：①起源于造血干细胞的克隆性疾病;②粒系、红系和巨核细胞系一系或多系发育异常;③无效造血（ineffective haematopoiesis）。     

骨髓增生异常综合征的诊断分型与预后判断及疗效标准

骨髓增生异常综合征 (ＭＤＳ)是一组起源于造血干细胞的克隆性疾病 ,其临床特征表现为主要发生于老龄人群的不明原因的慢性进行性血细胞减少 (绝大多数为全血细胞减少 )、骨髓造血细胞增多或正常 ,有发育异常的形态学改变、病程中常易发生致死性感染和出血 ,转变为急性髓系白血病(ＡＭＬ)的危险性很高。现将国际上关于ＭＤＳ的诊断分型、预后判断及疗效标准作一介绍 ,并就有关这些标准尚存在有争议的一些问题做一简要的探讨。1 ＭＤＳ的诊断标准 :1982年ＦＡＢ协作组根据骨髓和外周血有发育异常形态学改变的基本特征、加上外周血和骨髓中原…     

骨髓增生异常综合征的骨髓组织学诊断

骨髓增生异常综合征的骨髓组织学诊断陈宗铠王瑞林谭郁彬陈淑娴徐正慧刘延庆段秀绵陈文茹自１９８４年Ｔｒｉｃｏｔ等［１］描述了在骨髓增生异常综合征（ＭＤＳ）骨髓活检组织学中幼稚前体细胞异常定位（ＡＬＩＰ）的现象以来，ＡＬＩＰ在ＭＤＳ骨髓组织学诊断中的意义一...     

进一步规范骨髓增生异常综合征的分型

从系统论和控制论的原理出发 ,骨髓增生异常综合征 (MDS)是目前血液学中信息度较低的一组“灰区病”(greyzonedisease) [1] 。随着近些年来基础与临床研究的不断深入 ,人们发现法、美、英 (FAB)协作组分型法存在不少争议之处。世界卫生组织(WHO)于 1997年对MDS的FAB分型方案进行了较大修正[2 ] ,但仍然是一种有待不断补充、修正与完善的“开放式”分型体系 ,今后必将有另一些亚型调整或进入该分型体系中 ,使之更臻完善。作者认为 ,任何分型均是人为的 ,故而是“约定俗成”的 ,除非确实必要 ,就不宜改动太频 ,太多。现就当前我国MDS…     

骨髓增生异常综合征的实验室诊断

骨髓增生异常综合征（MDS）是一组获得性的、造血功能严重紊乱的、造血干细胞克隆性疾病。临床表现为不明原因的难治性慢性进行性血细胞减少,伴骨髓增生及病态造血,大部分患者三系减少,有的两系或一系减少,并且部分患者病情较稳定,表现为长期的“良性病程”,而1／3的患者在数月或半年时间内转化成急性白血病,故有人称其为前白。     

骨髓增生异常综合征与免疫异常

骨髓增生异常综合征与免疫异常徐世荣骨髓增生异常综合征（ＭＤＳ）为造血干细胞疾病，不仅在细胞遗传学、分子生物学、细胞生物学、血细胞酶学等方面有异常，而且在免疫学方面也存在异常。近１０余年来，研究进一步证实免疫功能异常在ＭＤＳ发病、发展，向急性白血病（Ａ...     

骨髓增生异常综合征分类更新及运用解读

2022年同时发布了造血和淋巴组织肿瘤第5版WHO分类(WHO 2022)以及髓系肿瘤和急性白血病的国际分类共识(ICC 2022),其中均对髓系肿瘤包括骨髓增生异常综合征进行了更新。本文聚焦于骨髓增生异常综合征的关键更新内容,比较了WHO和ICC两种分类的不同之处,并结合临床实际运用进行相关解读。     

伴有骨髓纤维化的骨髓增生异常综合征

据文献报告，骨髓增生异常综合征（MDS）在诊断时骨髓纤维化（MF）的发生率为6％～70％“－”，说明MDS伴MF常见。1982年以来我们诊断15例，占同期MDS的13．82％，现将其实验室追踪随访的结果及预后进行探讨。三资料分析1．亚临床资料15例均为我院门诊及住院病人，男9例，女6例，年龄16～7O岁，平均年龄48．5岁。其中RA13例，RAEBI例，RAEB－ti例。15例均排除巨幼贫、溶血性贫血、缺铁、再障及原发性MF。初诊时均有不同程度的贫血，出血倾向IO例，感染发热6例，淋巴结肿大3例，胸骨压痛3例，肝肿大4例，脾轻度肿大3例。1．2实验…     

关于骨髓增生异常综合征诊断与治疗的几点看法

骨髓增生异常综合征（ＭＤＳ）是一种好发于中老年人的恶性血液病，近年发病有逐年增多趋势，随着社会老龄化还会越趋明显。ＭＤＳ的早期诊断和有效治疗均待提高。我们对近年来下述几方面研究略作评述并提出一些新看法，希望能对ＭＤＳ研究有促进作用。一、用分子生物学方...     

The myelodysplastic syndromes: classification and prognosis

Myelodysplastic syndrome is a neoplastic clonal stem cell disorder characterized clinically by bone marrow failure and a tendency to progress to acute myelogenous leukemia. Dysplasia is the pathologic hallmark. The French-American-British classification served as the gold standard for more than two decades. Under the auspice of the World Health Organization, more than 100 hematopathologists in a 3-year cumulative effort issued the new World Health Organization classification, which recognizes multilineage dysplasia. Refractory anemia with excess blasts is divided into two groups. Chronic myelomonocytic leukemia is reclassified under a separate category. Refractory anemia with excess blasts in the transformation group was omitted. Finally, 5q-syndrome is a new subgroup. In addition to the pathologic classification, various prognostic predictors were formatted into scoring systems. Bone marrow blast percentage, cytopenias, and cytogenetics are the backbone for those prognostic models. The International Prognostic Scoring System is a product of pooled data from previous scoring systems and a useful tool to predict survival and acute myelogenous leukemia evolution. This paper discusses the classification and prognosis of myelodysplastic syndromes and their evolution.     

New agents in myelodysplastic syndromes

Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic disorders characterized by ineffective hematopoiesis resulting in peripheral cytopenia and by increased progression to acute myeloid leukemia (AML). Therapeutic interventions for MDS other than allogeneic stem cell transplantation have been palliative. Novel and targeted therapeutic agents such as the inhibition of farnesyl transferases and receptor tyrosine kinases, more potent thalidomide analogs, arsenic trioxide, immunomodulating agents, hypomethylating agents, and histone deacetylase inhibitors have shown encouraging results and may offer durable benefit to patients with MDS. Further development of rational therapies and improvements in the outcome of patients with MDS are likely to emerge from an increased understanding of the pathophysiology of these diseases.     

Clinical significance of WHO classification and MDS 2000 classification in myelodysplastic syndromes

Excluding chronic myelomonocytic leukemia, a total of 92 consecutive patients with myelodysplastic syndrome showing less than 20% blasts in the bone marrow were analyzed. We evaluated the clinical significance of the WHO and MDS 2000 classifications by reviewing each MDS patient according to the classification. The WHO criteria classified the MDS patients into 36 with RA, 22 with RCMD and 33 with RAEB, whereas according to the MDS 2000 criteria there were 19 RAEB-I patients and 15 RAEB-II patients. Based on the WHO classification, the RCMD patients had higher platelet counts and percentages of blasts among BM cells than the RA patients (P = 0.0018, P = 0.0001). Twenty percent of the RA patients, 44.8% of the RCMD patients, and 70.8% of the RAEB patients had cytogenetic abnormalities. Among them, the poor karyotype was present in 6.7% of the RA patients, 21.0% of the RCMD patients and 41.6% of the RAEB patients. The rate of acute leukemia death was 14.3% in the RA patients, 67.7% in the RAEB patients and 50.0% in the RCMD patients. Analysis of survival times revealed significant differences between RA and RCMD patients (P = 0.0482). The clinical features of RCMD patients were intermediate between those of RAEB and RA patients. There was no difference between the clinical features of the RAEB-I and RAEB-II patients in the MDS 2000 classification.     

FAB classification of myelodysplastic syndromes: merits and controversies

Guidelines for the definition and diagnosis of myelodysplasia were set out by the French-American-British Cooperative group (FAB), and the resulting framework has greatly helped the now very large number of workers in many scientific disciplines who are actively investigating the myelodysplastic syndromes (MDS). Most patients with MDS can be readily classified into clinically relevant subgroups by correlation of clinical findings with the findings from well-prepared peripheral blood and bone marrow specimens. However, there are several areas where the standard morphological features are insensitive, but integration of these parameters with histology and cytogenetic and molecular techniques may help us in understanding this fascinating disease.     

The technicon H6000 automated hematology analyzer in the diagnosis and classification of the myelodysplastic syndromes

The Technicon H6000 hematology blood counter is a fully automated analyzer which provides, in addition to conventional hematological blood values (i.e. RBC, PLT, etc.), a differential count of WBCs based on a combination of cytochemistry (peroxidase content) and cell volume analysis. Because of these characteristics, the H6000 quantitizes, as part of the full differential count, the number and percentage of "large unstained cells" (LUCs), i.e. large peroxidase-negative circulating elements with a cell volume above a predetermined threshold established for the lymphocytes of normal subjects. We evaluated the H6000 printouts (scattergrams) of 29 patients with myelodysplastic syndromes and of 12 other patients with transient cytopenias. The most important and constant diagnostic features for myelodysplastic syndromes were the increased proportion of LUCs and, in some cases, the high monocyte count, which are both automatically provided by the instrument.     

骨髓增生异常综合征FAB和WHO分型的临床评价

目的:评价和分析骨髓增生异常综合征(MDS)从FAB分型到WHO分型的发展和临床意义。方法:对MDS患者分别用FAB分型及WHO分型进行分型,并对形态学、临床、实验室检查及预后资料进行对比分析。结果:MDS和急性髓性白血病(AML)均可出现病态造血。FAB分型中难治性贫血(RA)、原始细胞过多难治性贫血(RAEB)、转化中的原始细胞过多难治性贫血(RAEB-T)及AML之间生存率差异有统计学意义。WHO分型中RA与难治性血细胞减少伴多系增生异常(RCMD)之间生存率差异无统计学意义,RA与RAEB、RCMD与RAEB之间生存率差异有统计学意义,RAEB-Ⅰ与RAEB-Ⅱ之间生存率有显著差异。结论:WHO分型将FAB分型中的RA分为RA和RCMD并未显示出临床优越性。RAEB-T生存期比AML更短,因而将RAEB- T归为急性白血病,对临床治疗有好处。WHO分型按照原始细胞百分比将RAEB分为RAEB-Ⅰ和RAEB-Ⅱ,对临床诊断、治疗和预后有益。