骨髓增生异常综合征99例临床分析

目的探讨骨髓增生异常综合征(MDS)患者WHO亚型分布、细胞遗传学特点及其与MDS诊断分型、疾病进展和预后的关系。方法回顾性分析2001年1月至2007年12月安徽医科大学附属安徽省立医院血液科收治的99例成人原发MDS患者的染色体核型、WHO分型及预后情况,随访观察并进行相关性研究。结果99例MDS患者难治性贫血(RA)型26例(26.26%);难治性贫血伴环形铁幼粒细胞增多(RAS)型6例(6.06%);难治性贫血伴多系发育异常(RCMD)型23例(23.23%);难治性贫血伴原始细胞增多(RAEB)型44例(44.44%)。按IPSS预后分组,中危Ⅱ和高危组的染色体核型异常检出率明显高于低危和中危Ⅰ组(χ2=17.88,P<0.01);中危Ⅱ和高危组患者进展为急性白血病的发生率明显高于低危和中危Ⅰ组(χ2=40.22,P<0.01)。按IPSS染色体核型分组,预后好、中、差的患者中位存活期分别为45(95%CI:39~51)、37(95%CI:25~49)和23(95%CI:13~31)个月,Log-rank检验三组总体生存(OS)率差异有统计学意义(P=0.010)。结论中国有别于西方国家MDS患者的WHO亚型分布,染色体核型分析是MDS诊断分型及预后评估的重要指标。     

老年骨髓增生异常综合征患者染色体核型及临床研究

目的探讨骨髓增生异常综合征（MDS）患者染色体异常克隆与WHO分型及临床转归的关系，以及老年MDS患者国际预后积分系统（IPSS）分组特点。方法采用骨髓短期培养和G显带技术对48例MDS患者进行染色体核型分析，同时追踪其临床病情进展情况。结果48例MDS患者中，老年患者28例，占58．3％。IPSS评分中危2组和高危组老年患者为21例，占75％，非老年患者11例，占55％。在48例患者中有28例检出异常克隆，以高度复杂异常和＋8最多。难治性贫血（RA）异常核型检出率29．4％，难治性血细胞减少伴多系增生异常（RCMD）异常核型检出率66．6％，难治性贫血伴原始细胞增多（RAEB）异常核型检出率76％。48例患者经追踪观察，17例（11例为老年患者）转化为急性白血病，其中复杂和高度复杂核型异常者8例。IPSS评分中高危组白血病转化率为71．4％，明显高于其它组。结论老年MDS患者中，中高危患者比例高，染色体核型分析在MDS的预后评估中有重要价值。     

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…     

按FAB、WHO标准对骨髓增生异常综合征分型及疗效比较

骨髓增生异常综合征(MDS)是一组独立的具有异质性的克隆性造血干细胞疾病，以骨髓无效造血所致的血细胞减少和高危转化为急性白血病(AL)为特征。由于本病在我国发病率日渐增高，且治疗反应差，故成为临床血液学者研究的热点。我们回顾性分析了152例MDS患者的临床资料，分别按照FAB     

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。     

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.     

21例骨髓增生异常综合征患者的染色体核型分析

骨髓增生异常综合征（MDS）系克隆性造血干细胞疾病,临床以无效造血和外周血细胞减少为特征,约50％患者有染色体异常。2003-2004年,我们对21例MDS患者的染色体核型进行了分析,旨在探讨染色体核型对MDS诊断、鉴别和预后判断的价值。     

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.     

骨髓增生异常综合征45例患者的染色体核型研究

目的:探讨骨髓增生异常综合征(MDS)患者染色体异常克隆与WHO分型及临床转归的关系。方法:采用骨髓短期培养和G显带技术对45例MDS患者进行染色体核型分析,同时追踪其临床病情进展情况。结果:45例MDS患者中有27例(60%)检出异常克隆。在异常染色体核型中 8和高度复杂异常最多,其次为-7/7q-和复杂异常。难治性贫血(RA)异常核型检出率33.3%,难治性血细胞减少伴多系增生异常(RCMD)异常核型检出率66.6%,难治性贫血伴原始细胞增多(RAEB)异常核型检出率75%。45例患者经追踪观察,16例(35.5%)患者转化为急性白血病,其中复杂和高度复杂核型异常7例,3例 8患者,2例-7/7q-患者,4例在初诊时核型正常。国际预后评分系统(IPSS)评分中低危组和中危1组白血病转化率为0,中危2组白血病转化率为18.2%,高危组为70%,明显高于其他3组,差异有统计学意义。结论:染色体核型分析在MDS的预后评估中有重要价值。     

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...     

Pathobiology, classification, and diagnosis of myelodysplastic syndrome

Recent advances in molecular genetics have advanced the knowledge regarding the mechanisms leading to myelodysplastic syndrome (MDS), secondary acute myeloid leukemia, and therapy-induced MDS. Unfavorable cytogenetics associated with this group of disorders includes monosomy or deletion of the long arm of chromosomes 5 or 7, inversions of chromosome 3, translocations, deletions, and trisomies involving several other chromosomes. These unbalanced chromosomal aberrations result in hemizygosity and unmasking of oncogenes, changes in levels of expressed genes, or inactivation of tumor suppressor genes. It is evident that the cytogenetics associated with MDS is highly complex and heterogeneous, leading to an equally heterogeneous manifestation of the disease. Classifications, initially defined by the French-British-American group followed by the World Health Organization, and now by the International Prognostic Scoring System, have determined prognosis and helped develop treatment strategies for these patients, thus reducing their potential to develop acute leukemia. To date there are seven different prognostic schemas. These are constantly being improved so that MDS patients, who tend to be elderly, can be suitably treated. Additionally, treatment considerations and prognosis are different for patients who develop therapy-related MDS or for the juvenile population than for those with de novo MDS. The genetic alterations in MDS bone marrow and blood cells have been identified and possible models have been proposed for the development and progress of MDS, from the early stage to late-stage MDS evolving to acute myeloid leukaemia. As the functional mechanisms behind these chromosomal changes are being revealed, new therapies based on these mechanisms are currently being made and tested.     

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.     

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 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.     

Modulation of angiogenesis in patients with myelodysplastic syndrome

Current investigations have revealed that angiogenesis plays a role in the pathogenesis of high-risk myelodysplastic syndrome (MDS) and acute myeloid leukemia, and in the mechanisms of disease progression. Secretion of cytokines and growth factors modulates angiogenesis in the marrow leading to increased vascularity and sustenance of the clonal population. For high-risk MDS patients older than 60 years who are not eligible for aggressive chemotherapy or stem cell transplant, there are few therapeutic options other than supportive treatment. Recent delineation of the pathobiology of MDS has resulted in the development of new agents and treatment modalities that impact on these mechanisms. One of the features of bone marrow pathology is the presence of new vessels, which appear to sustain growth and the hypercellularity of the marrow. Blocking angiogenesis may reduce the microvessel density of the marrow, cellularity, and disease progression. Angiogenesis can be targeted by inhibition of vascular endothelial growth factor (VEGF), which modulates new vessel growth, by the use of antibodies aimed at VEGF and its receptors, as well as receptor tyrosine kinases that block VEGF signaling. Other agents include inhibitors of farnesyl transferase and protein kinase C, which affect upstream modulators of growth factors and their receptor interactions; matrix metalloproteinases, which disrupt matrices and adhesion function promoting vessel growth; and other inhibitors with broader function, such as endostatin, thalidomide, and related analogues.     

Prognostic value of trisomy 8 in primary myelodysplastic syndrome

Background: According to the International Prognostic Scoring System (IPSS), sole +8 is categorized as intermediate cytogenetic subgroup. But as some myelodysplastic syndrome (MDS) patients with +8 perhaps progress quickly to acute leukaemia and have shorter survival, some reports have suggested that +8 should be categorized into poor risk cytogenetic group. The aim of this study was to clarify the prognostic role of +8 in MDS patients by comparing patients with normal karyotype, 20q‐ and ‐7/7q‐. Methods: The consecutive samples of 435 MDS patients in Shanghai were collected by prospective methods and diagnosed according to World Health Organization classification. Cytogenetic analysis was performed using conventional G‐banding karyotyping and fluorescence in situ hybridization techniques. Prognosis was estimated by univariate Log‐rank method and multivariate Cox proportional hazard models. Results: Of 424 cases completing the cytogenetic analysis, 71 (16.7%) had +8, including 38 patients with sole +8 (9.0%). No significant difference in median survival was observed between patients with sole +8 and that with +8 and one of other abnormalities. The +8 clone size was not linked to survival. The median survival of patients with +8, normal karyotype and complex karyotype was 25 months, 38.1 months and 5.9 months respectively. However, no significant difference was observed between patients with 20q‐ (21.4 months) and ‐7/7q‐ (25.8 months). Trisomy 8 was an independent prognostic factor by Cox regression model. Conclusion: There is no significant difference in prognosis between patients with +8 and patients with 20q‐ or ‐7/7q‐. Trisomy 8, 20q‐ and ‐7/7q‐ are categorized as intermediate cytogenetic risk according to our primary study.     

Necrotizing fasciitis in two patients with myelodysplastic syndrome treated with azacitidine

Azacitidine is a novel agent for treating myelodysplastic syndromes (MDS). It has a relatively safe toxicity profile with very few reported skin toxicities. Patients with MDS were prone to get severe infections, especially via respiratory tract, urinary system, and bloodstream. However, necrotizing fasciitis (NF) is a relatively rare event in patients with MDS, and it is hard to diagnose early. Here, we report two MDS cases that developed NF in lower extremities while receiving azacitidine treatment. One of them survives after emergent fasciotomy along with the administration of broad‐spectrum antibiotics and intravenous immunoglobulin.     

Danazol for the treatment of thrombocytopenia in patients with myelodysplastic syndrome

Thrombocytopenia is a poor prognostic indicator in the myelodysplastic syndromes (MDS). Treatment options for patients with symptomatic thrombocytopenia are limited. Danazol, an attenuated androgen, may have some efficacy in increasing the platelet count of patients with MDS. We retrospectively reviewed 33 patients with primary MDS who were treated with danazol for 6 or more weeks. After 6 weeks on danazol, the mean platelet count increased from 42 x 10(9)/L to 60 x 10(9)/L (P < 0.015), and 25 out of 33 patients (76%) had an increase in their platelet counts. Following 12 weeks of treatment, the mean platelet count increased to 67 x 10(9)/L (P < 0.005), and 21 out of 29 patients (72%) had an increase in their platelet counts. Seven out of nine patients no longer required platelet transfusions because bleeding stopped after 6 weeks on danazol. Mean duration of response was 10 months (range 2-68 months). Responses were seen in all French-American-British (FAB) subtypes and in all International Prognostic Scoring System (IPSS) scores. Therapy was well tolerated. Danazol may be effective in MDS patients who are thrombocytopenic.