原发骨髓增生异常综合征患者IPSS及染色体核型的临床分析

目的:比较原发性骨髓增生异常综合征(MDS)患者WHO(2001)分型与FAB分型的IPSS染色体核型分析及预后的相关性分析。方法:经FAB标准确诊的原发MDS的患者重新按WHO标准分型,对2种结果的IPSS及染色体异常与各亚型的关系进行分析。结果:按FAB分型各亚型的IPSS及染色体异常无显著性差异,按WHO分型的难治性细胞减少伴多系增生异常(RCMD)与难治性贫血(RA)患者染色体异常率有统计学意义(66.6%,41.7%,P<0.01),RAEB-2高危组比例明显高于RAEB-1组(25%,0%,P<0.01)。结论:原发MDS的WHO分型与FAB分型相比,前者与预后的相关性更好。     

38例骨髓增生异常综合征患者染色体分析

我们回顾性分析了本院 1 999年 9月～ 2 0 0 3年5月门诊或住院的 38例骨髓增生异常综合征(MDS)患者染色体改变及临床预后情况 ,现报告如下。1　资料与方法1 .1 　 病例选择本院门诊或住院原发性MDS患者 34例 ,继发性MDS患者 4例 ( 2例有肝病 1 0余年史 ,1例有农药接触史 ,1例膀胱癌术后 1 0余年 ,术后曾化疗 2次 ) ,男 2 2例 ,女 1 6例 ,年龄 1 3～ 73岁 ,中位年龄 43岁。均符合FAB标准分型〔1〕。1 .2 　 染色体的制备和分析所有患者均在疾病初发未治疗或接受短期抗贫血治疗效果不佳时抽取骨髓 ,采用直接法或不加植物血凝素 (PHA)的…     

染色体微阵列分析在骨髓增生异常综合征诊疗中的应用

目的:探讨染色体微阵列分析(CMA)在指导骨髓增生异常综合征(MDS)的诊断、治疗方式选择及预后判断中的意义。方法:收集2016年3月至2020年6月收治的确诊及疑诊MDS并行CMA检查的36例患者的临床资料,对染色体核型、治疗及预后情况进行回顾性分析。结果:确诊MDS患者27例,其中18例检测到恶性血液疾病相关的染色体改变,占66.67%。其中含Loss、LossMosaic 14例,占77.78%;含GainMosaic 3例,占16.67%;含UPD7例,占38.89%。27例患者中位总生存时间11(1～96)个月。相关性分析显示,患者的临床结局与性别(P<0.05),是否确诊MDS(P<0.01),危险度分级(中低危vs高危)(P=0.001)和CMA检测结果(P<0.01)具有相关性。logistic回归分析提示,CMA检测结果[阴性vs阳性,OR=2.565(95%CI 1.059～4.345),P<0.05]是预测临床结局的独立危险因素。生存曲线分析显示CMA检测为阴性的患者总生存率优于CMA检测为阳性的患者,但两者生存曲线差异无统计学意义(P=0...     

骨髓增生异常综合征20例临床分析

骨髓增生异常综合征２０例临床分析山东省千佛山医院（２５００１４）平邑县卫生局李岩杨孝丽近１０年来，我院收治骨髓增生异常综合征（ＭＤＳ）患者２０例。现分析如下。临床资料：患者年龄２４～６５岁，平均４８岁。病程２个月至５年。均有不同程度的贫血，其中首发症...     

骨髓增生异常综合征181例临床分析

骨髓增生异常综合征（MDS）是一组源于造血干细胞的恶性克隆性疾病，可以是原发的或是继发于其他因素。原发性MDS目前尚未阐明病因，继发性MDS国内报道少见。本文总结了我院1975～1994年确诊的MDS181例，具体比较了有详细病例资料的1985～1994年间确诊的114例MDS，为进一步研究     

骨髓增生异常综合征(WHO分型)细胞的生物学特征及其意义

目的：本研究分析骨髓增生异常综合征（MDS）的WHO诊断和分型特点，了解其细胞形态学特征，国际预后积分系统（IPSS）和染色体变化的特点以及免疫学表型特征。方法：采用回顾性研究收集近6年来我院122例确诊为MDS患者的临床资料、实验室检查资料、染色体及免疫表型结果。采用SPSS11．5软件包进行统计学分析。结果：MDS中位发病年龄为41．5岁，初诊时59．84％的患者有全血细胞减少。WHO-RCMD和FAB-RA患者比例较高，各占33．61％和50．82％。骨髓细胞形态学提示各系均有不同程度病态造血，以3系病态造血最多见（55．74％）。81例骨髓活检患者中60．49％出现病态造血，46．9％出现ALIP现象。51例患者进行细胞遗传学检查，染色体异常率为47．1％，染色体异常发生率在WHO各亚型中差异无统计学意义（P〉O．05）。IPSS积分以中危-I组最多见，染色体异常发生率随危险度上升而增高（P〈0．05）。流式细胞术检测中MDS患者CD34^＋阳性率为75％，高于同组AMLM1和AML—M2（P〈0．05）；CD33叶。阳性率为62．5％，CD13^＋阳性率为56．25％，低于同组AML-M1和AML-M2（均P〈0．05）。结论：WHO分型对MDS的早期诊治及其预后具有临床指导意义，优于FAB分型。骨髓细胞学、骨髓活检、细胞遗传学及免疫表型的联合诊断，可以减少WHO-RA假阳性率发生。如将免疫学指标列入IPSS系统，对MDS预后判断更科学。     

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。     

58例继发性骨髓增生异常综合征临床分析

骨髓增生异常综合征(MDS)是一种起源于多能造血干细胞的恶性克隆性疾病,主要表现为外周血全血细胞减少,骨髓细胞增生,成熟和幼稚细胞有形态异常即病态造血.部分患者在经历一定时期的MDS后可转化成为急性白血病.MDS可分为原发性及继发性.原发性MDS目前病因未明,继发性MDS(s-MDS)则多由长期应用细胞毒药物、体细胞突变、放射性物质、密切接触化学毒物、病毒感染以及自身免疫性疾病、恶性肿瘤、结核等引起.本文对我科15年内收治的s-MDS患者的临床资料进行了回顾分析,旨在为临床上MDS的诊断及鉴别诊断提供参考.     

骨髓增生异常综合征患者染色体变化与预后的关系

采用骨髓细胞短期培养法或直接法R带技术,对81例骨髓增生异常综合征(MDS)患者进行染色体核型分析.结果染色体核型异常37例,主要涉及8、5、7、9、11、20号染色体及Y染色体;正常44例.染色体核型正常与异常者的转白率分别为13.6%、54.1%,病死率分别为18.2%、64.9%,中位生存期分别为42.1、23.6个月,其差异均有统计学意义(P均<0.05).提示MDS患者的染色体变化对其预后判断有重要价值.     

骨髓增生异常综合征WHO分型标准的临床应用

目的:分析世界卫生组织(WHO)与法-美-英协作组(FAB)2种标准分型结果的不同点,探讨WHO分型标准临床应用价值.方法:选择179例骨髓增生异常综合征(MDS)患者,其中168例是2003年～2006年确诊的原发性MDS,11例有血细胞减少伴有病态造血的病例.对179例患者按FAB与WHO 2种分型方案重新进行评价.结果:按FAB分型标准:RA 50例,RAS 9例,RAEB 62例,RAEB-T 23例,CMML 24例,11例未明确诊断,只描述了形态学特点.按WHO分型标准:RA 14例,RAS 5例,RCMD 36例,RCMD-RS 4例,MDS-U 5例,6例不能确诊.结论:2种分型方案有较大差异,由于WHO分型中RA只限于贫血, 单纯红系病态造血; 将2系以上血细胞减少,2系以上病态造血,原始细胞<5%的病例归入了WHO新的亚型RCMD.通过本组病例分析:RCMD介于RA与RAEB中间,原始细胞不增多与RA相似,临床症状、实验室检查、血细胞形态学特点与RAEB相似.WHO将RAEB根据原始细胞数量分为两型,RAEB-T归入急性白血病,CMML归入骨髓增殖性疾病中,更符合临床的实际需要,有利于临床医师对治疗方案的选择.WHO分型方案仍需补充、修正、给血液学工作者提供更为完善的诊断标准.     

Myelodysplastic syndromes: analysis of 131 cases according to the FAB classification

The clinical and haematological findings in 131 patients with myelodysplastic syndromes (MDS), none of which had previously received chemotherapy or radiotherapy, classified according to the FAB criteria, were analysed. The distribution among the 5 subgroups was: RA 31 patients, RAS 19, RAEB 23, CMML 29 and RAEBT 29 patients. There were difficulties in the classification of 24 patients. These included, first, 8 cases with myeloid hyperplasia of the bone marrow (BM) but without monocytosis or excess of blasts of the BM. They were classified as RA. Second, 8 cases with sideroblastosis but with monocytosis or excess of blasts of the BM were classified 3 as RAEB, 2 as CMML and 3 as RAEBT. Finally, 8 cases with absolute monocytosis and BM blasts 15-30% were classified as CMML. 37 of 82 dead patients (45.1%) had transformed to acute non-lymphoblastic leukaemia (ANLL). The incidence of evolution to ANLL was low for RA and RAS (6.30% and 12.5% respectively), while it was 37.5% for RAEB, 57.1% for CMML and 77.2% for RAEBT. The median survival for each subgroup was: RA 18 months; RAS 25; RAEB 13; CMML 14 and RAEBT 10 months. It is concluded that the FAB classification with some modifications recognises group of MDS with different prognosis.     

Myelodysplastic syndrome in a patient with adult T-cell leukaemia

A 53-year-old female who developed myelodysplastic syndrome (MDS) after chemotherapy for adult T-cell leukaemia (ATL) is described. The latent period of therapy-related MDS (t-MDS) from the time of diagnosis of ATL was approximately 35 months. Cytogenetic analysis of the bone marrow cells at the time of diagnosis of t-MDS revealed a clonal abnormality; 46,XX,add(7)(p13), der(17)t(3;17)(p11;p13). Although monoclonal integration of human T lymphotropic virus type I (HTLV-I) proviral DNA was detected in the peripheral blood lymphocytes at ATL diagnosis, bone marrow cells at t-MDS diagnosis did not show monoclonal integration of HTLV-I. To our knowledge, this is the first report of t-MDS associated with ATL.     

Clinical, haematological and histomorphological profile of adult myelodysplastic syndrome. Study of 96 cases in a single institute

Myelodysplastic syndromes (MDS) are clonal haematopoietic stem cell disorders characterised by ineffective and dyspoietic haematopoiesis. The natural history of these disorders is variable and ranges from a chronic to a rapid course towards leukaemic progression. Certain shortcomings have been encountered in the French-American-British (FAB) classification over the years, and therefore there is a need for an alternative method of classification. In 1999, the WHO published a revised classification of MDS. In the present study, we have analysed the clinical, haematological and histomorphological features in 96 cases of primary MDS seen in the department of haematology at the All India Institute of Medical Sciences (AIIMS) over a 6-yr period (1996-2001). Both FAB and WHO classifications have been incorporated and the Bournemouth scoring system applied in each case at presentation. The Bournemouth scoring system, in the absence of a cytogenetic study, offers a good prognostication and long-term survival estimate.     

Myelodysplastic syndrome with trisomy 11 associated with polycythemia vera

A 52-year-old male with myelodysplastic syndrome (MDS) who had a prior history of polycythemia vera is reported. Chromosome analysis revealed that the bone marrow and blood cells at the MDS phase contained trisomy of chromosome 11 as the sole cytogenetic change. Trisomy 11 is rarely found in hematologic neoplasia, and all of the reported cases with trisomy 11 were diagnosed as having nonlymphocytic neoplasia. In this report, a correlation between the chromosome change and leukemia/MDS developed in polycythemia vera is discussed.     

应用2008年WHO新分类分析骨髓增生异常综合征患者186例

目的:应用2008年WHO髓系肿瘤新分类法,对既往诊断的骨髓增生异常综合征(MDS)患者重新分类,了解各亚型的临床和实验室检查特点。方法:回顾性分析186例MDS患者初发病时的临床表现、血常规、骨髓象、骨髓病理学和细胞遗传学等方面的临床特点。RCUD34例,RARS19例,RCMD22例,RAEB-162例,RAEB-237例,MDS-U9例,5q-3例。并进行电话随访,追踪其临床病情进展情况。对随访结果结合临床资料应用SPSS13.0软件包进行数据处理。结果:按照新分型标准,34例RCUD中,RA12例,RN19例,RT13例,186例MDS患者中位发病年龄为62岁,资料齐全的随访病例123例,中位生存期30.2个月,各亚型中位生存期分别为RCUD84个月,RARS50个月,RCMD40个月,RAEB-117个月,RAEB-211个月,MDS-U69个月,RCUD、RARS、RCMD及MDS-U的中位生存期与RAEB-1、RAEB-2差异有统计学意义(P<0.05)。已确诊转化为急性髓系白血病共14例,其中12例死亡,转白后中位生存期仅4个月。结论:新分型标准中RCUD包含原有的RA亚型,新增加RN、RT亚...     

Myelodysplastic syndrome with myelofibrosis: myelodysplastic syndrome as a major primary disorder for acute myelofibrosis

Summary Seven cases of myelodysplastic syndrome with myelofibrosis, which is defined using the following criteria: (1) pancytopenia with < 5% blasts in the peripheral blood; (2) minimal or no splenomegaly; (3) myelofibrosis with cellular marrow; (4) absence of diffuse proliferation of blasts in the bone marrow; and (5) presence of myelodysplastic features of bone marrow or peripheral blood cells, are presented. They were in the range of 52–82 years old and consisted of 3 males and 4 females. Six out of 7 cases developed into acute leukaemia after 5 to 8 months from the onset and died from between 2 weeks to 8 months from the evolution to leukaemia. The type of leukaemia was acute myeloblastic in 3 patients, and acute myelo-megakaryoblastic in 3 patients. Another patient died of severe hepatic injury after 5 months from the onset of the disease. These findings revealed that the complication of myelofibrosis in the patients with myelodysplastic syndrome was an indicative sign of rapid progression to overt leukaemia or otherwise poor prognosis for survival. In addition myelodysplastic syndrome is thought to be major primary disorder for acute myelofibrosis. Myelodysplastic syndrome with myelofibrosis is closely associated with the neoplastic proliferation of megakaryoblasts in a considerable number of patients.     

Myelodysplastic syndrome treatment with danazol and cis-retinoic acid

We prospectively treated 46 patients with favorable myelodysplastic syndrome classified as refractory anemia (RA), refractory cytopenia (RC), or refractory anemia with ringed sideroblasts (RARS). These patients received one of two schedules of 13-Cis-Retinoic Acid (low dose 80 mg daily for 6 months vs. high dose 200 mg po daily for 3 months), or Danazol (800 mg po daily for 3 months), and were crossed over to the alternative drug in the absence of response or at progression. Using strict criteria of response we found little objective evidence of activity for either compound. Only two minor responses were seen among 22 patients treated with low dose 13-CRA, 1 response among 20 cases that received high dose 13-CRA, and 1 partial response and 1 minor response to Danazol among 34 cases. Neither 13-Cis-Retinoic Acid nor Danazol appear active enough in patients with favorable myelodysplastic syndrome to justify their use. © 1995 Wiley-Liss, Inc.     

Myelodysplastic syndromes: analysis of clinical and prognostic features in 96 patients

In a retrospective study of 96 patients with a myelodysplastic syndrome the FAB classification, Bournemouth score and other parameters were correlated with leukaemic transformation and survival. Diagnosis was refractory anaemia (RA) in 7 patients, acquired idiopathic sideroblastic anaemia (AISA) in 2, chronic myelomonocytic leukaemia (CMML) in 31, refractory anaemia with excess of blasts (RAEB) in 34 and RAEB in transformation (RAEB-t) in 22. Median survival for all patients was 37 weeks (RA and AISA 103, CMML 67, RAEB 35, RAEB-t 27). Scoring according to the Bournemouth criteria showed significant differences in survival between groups A, B and C. Of the separate variables, only percentage of bone marrow blasts and haemoglobin level were prognostically significant. A modified scoring system based upon these two variables was even more discriminative. It proved to be particularly useful in CMML, a subtype with a wide range of survival times. Leukaemic transformation was seen in 39% (RA and AISA 0%, CMML 30%, RAEB 39%, RAEB-t 75%).