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1.
按照WHO标准,主要依靠外周血细胞减少、细胞形态学(骨髓细胞病态造血、环形铁粒幼红细胞计数、原始细胞比例)、细胞遗传学核型分析,对骨髓增生异常综合征(MDS)进行诊断和分型。重要的辅助诊断包括骨髓病理活检或(和)免疫组织化学、流式细胞免疫表型和MDS相关基因突变的检测。病态造血是MDS诊断分型的形态学基础,原始细胞不增多的MDS主要依靠病态造血进行诊断分型。病态造血巨核细胞≥10%或环状铁粒幼红细胞≥15%,对MDS具有较确定性的诊断意义。部分MDS-SLD及MDS-MLD,巨核细胞系无病态造血,仅有红细胞系和(或)粒细胞系病态造血细胞的比例≥10%,属于真正意义上的MDS最低诊断标准,在实际操作起来难以准确把握,诊断MDS时应慎重,并需排除反应性病态造血。该文详细介绍了细胞形态学对MDS的诊断意义,详细解读了各系病态造血的细胞形态学特征以及笔者的经验和体会,分析总结了MDS的诊断思路,阐述了MDS诊断中应注意的问题,对于MDS的精准诊断及防止误诊具有建设性意义。  相似文献   

2.
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。  相似文献   

3.
目的:比较正常核型和异常核型骨髓增生异常综合征(MDS)的细胞形态学的特点。方法:回顾分析82例MDS患者,通过对正常核型和异常核型MDS患者的细胞形态进行观察,分析二者形态学的差别。结果:核型异常组31例,占37.8%,核型正常组51例,占62.2%,2组外周血比较,核型异常组易出现原粒细胞、早幼红细胞、大红细胞,P<0.05;骨髓细胞形态比较,核型异常组三系病态造血比例高(>30%),P<0.05;原粒、淋巴样小巨核和畸形血小板比例高,P<0.05;核型异常组红系病态造血易见子母核、奇数核和多核,P<0.05;核型异常组有6例转为急性白血病。结论:异常核型MDS较正常核型组细胞病态造血发生率明显增高,原始细胞比例增高,转为白血病的比例高,预后差。  相似文献   

4.
张慧芳 《山东医药》2011,51(28):71-72
目的通过对巨幼细胞性贫血(MA)同时伴环铁粒幼细胞增多和骨髓增生异常综合征(MDS)的骨髓象的分析,进一步提高MA和MDS的诊断和鉴别诊断水平。方法结合临床资料对我院2009年1月~2011年1月诊治的5例MA患者进行外周血、骨髓细胞形态学分析。结果 5例MA患者外周血检查均为3系减少,MCV值〉100 fl;骨髓象检查巨幼红细胞增多,全血细胞系呈现核畸形等类病态造血象;骨髓铁染色见内外铁明显增多,可见环形铁粒幼细胞,初诊结果支持MDS。但均未见红细胞系奇书核、粒细胞间桥、小淋巴样巨核细胞等典型诊断MDS的较明确的病态造血形态学标志,故考虑为MA。给予叶酸、维生素B12治疗后临床症状明显改善,支持MA的诊断。结论提高对血液病异常造血的认识,反复推敲仔细观察细胞形态,结合病史、染色体检查、组化检查,可进一步提高MA和MDS的诊断和鉴别诊断水平。  相似文献   

5.
目的:探讨外周血常规、外周血涂片、骨髓细胞检查的形态学改变在骨髓增生异常综合征(MDS)诊断中的临床意义,以提高其诊断的准确性。方法:对19例MDS患者的血液学特征进行回顾性分析。结果:19例中,外周血常规全血细胞减少9例(47%),两系减少8例(44%)。分类可见有核红细胞9例(47%),原始细胞6例(31%),血小板减少12例(62%)。骨髓学检查:增生极度活跃至活跃16例(84%),增生减低3例(16%),1系~2系病态造血17例(89%)。结论:MDS形态学改变异常复杂,部分MDS患者无病态造血,诊断困难,尤其是低危组诊断标准变异大,因此结合血常规、外周血涂片检查、骨髓细胞形态学检查是其诊断和分型的重要依据。  相似文献   

6.
目的:评估外周血中性粒细胞形态异常对骨髓增生异常综合征(MDS)的诊断意义。方法:检测26例MDS病人外周血(PB)和骨髓(BM)标本。结果:MDS组的PPP、G-score与对照组相比差异显著(P<0.001),MDS组PB和BM的PPP、G-score有显著相关性,MDS组PB的PPP、G-score与BM的粒系和总病态造血程度及幼稚细胞百分比有显著相关性。结论:外周血中性粒细胞的G-score和PPP间接反应骨髓病态造血程度在MDS的诊断、鉴别诊断、预后判断中与BM检查有相互补作用。  相似文献   

7.

2016 年,世界卫生组织(WHO) 对骨髓增生异常综合征(MDS) 的细胞形态学重现性特征细化,并综合染色体、 分子生物学变化及临床预后,对MDS 分类进行了修订。取消以血细胞减少系列的名称,代以MDS 伴相应病态造血、 原始细胞和细胞遗传学异常。骨髓原始细胞比例以全髓有核细胞计,取消既往的“非红系”计算,使得过去符合急性 红白细胞白血病再分类为MDS-EB。del(5q) 预后良好,除外单体7 和del(7q),再伴有1 个额外核型异常亦不影响预后。 在原始细胞增多和出现MDS 典型染色体时,不需要形态学病态造血指标达标即可诊断MDS。SF3B1 突变与MDS- 环状铁幼粒红细胞(RS) 关系紧密,使RS 阈值降至5%。TP53 突变或缺失则预后不良。NPM1 和MLL 阳性提示进 展为AML。  相似文献   


8.
目的探讨骨髓增生异常综合征(MDS)患者造血细胞中病态造血状况与骨髓单个核细胞遗传学异常变化特征,判断其在该类疾病诊断及预后中的作用和价值。方法经骨髓涂片检查及骨髓组织切片活检确诊的57例MDS患者同时进行骨髓单个核细胞直接培养法R带显带技术进行染色体核型分析,并观察该类患者骨髓造血细胞病态造血、染色体核型异常与患者生存期关系。结果 MDS的病态造血以三系病态造血为多见,其骨髓活检阳性检出率高,尤其对巨核细胞病态造血检出更突出。MDS患者多易出现染色体异常,常见为5 q-、11 q-、20 q-、+8、-7和染色体异位、复杂异常核型,复杂异常染色体核型患者生存期明显缩短。结论骨髓活检是准确反映MDS患者病态造血的特异性检查方法。三系病态造血及复杂异常染色体患者转为急性白血病概率大、生存期短,预后差。  相似文献   

9.
目的 探讨骨髓涂片和活检形态学检查对骨髓增生异常综合征(MDs)的诊断中的价值。方法 同时对30例MDS骨髓涂片和活检活组织检查结果进行分析。结果 30例患者骨髓象表现二系及三系病态造血,骨髓活组织检查可见幼稚前期细胞异常定位(ALTP)及病态造血。结论 联合应用骨髓涂片和活检,以对MDS提高检出率,并提供有价值的依据。  相似文献   

10.
目的:探讨骨髓增生异常综合征RA型(MDS-RA)的血液、骨髓涂片、骨髓病理组织学等的改变,为其疑难病例提供诊断价值。方法:将近几年的MDS资料中筛选MDS-RA被诊断时的资料,进行相关指标统计分析。结果:外周血:以二系或三系减少者为多见;49%的患者可见幼红细胞,44%的患者可见白细胞异常改变;骨髓涂片:以增生活跃和增生低下多见,病态造血者占83%(66/79)例,骨髓病理:以增生活跃为多见;粒系前体细胞增多者32例(41%),可见或偶见“幼稚前体细胞异常定位”(ALIP)者56例(71%);幼红细胞发育滞停,可见原红细胞岛、同一发育阶段的幼红细胞岛占58(73%)例,有异型巨核细胞者56(71%)例,纤维组织增多占72(91%)。结论:骨髓活组织检查对MDS-RA必不可少的联合诊断方法。  相似文献   

11.
Insufficiency of the pituitary gland and hematological abnormalities may coexist in the context of two syndromes. In the course of some hematopoietic neoplasms, particularly acute leukemias, the pituitary insufficiency may be caused by destruction of the gland either by direct neoplastic infiltration or occlusion of vessels. Alternatively, thy pituitary dysfunction may be associated with but not caused by hematological abnormalities, usually mild peripheral cytopenias. We present four cases of the latter type (1. M/33, pituitary tumor, hypogonadism, hyperprolactinemia, anemia, mild leukopenia with leukocytosis, 2. F/54, pituitary tumor, hyperprolactinemia, thyreotropic and corticotropic insufficiency, anemia, thrombocytopenia, mild neutropenia, 3. F/27, pituitary tumor, diabetes insipidus, hypogonadism, sideropenic anemia, leukopenia, thrombocytopenia, 4. M/24, primary multihormonal insufficiency of the anterior portion of the pituitary gland, neutropenia, microcytosis). Trephine and aspiration bone marrow biopsies revealed topographic and cytological abnormalities partially resembling these found in myelodysplastic syndromes (MDS). Bone marrow cellularity varied markedly between and within the cases, and in three patients abnormal aplastic areas were found. The percentage of hematopoietic stem cells (CD34+) was low in three cases and normal in one case. Pituitary dysfunction may be associated with hematological abnormalities simulating MDS, but showing different, less aggressive clinical course. The proliferative potential of hematopoietic cells is low, the peripheral blood abnormalities are stable, and no patient developed acute leukemia. Detailed bone marrow examination, including the trephine bone marrow biopsy, is useful in differentiation with true MDS, which was also reported in the literature in the patients with pituitary insufficiency.  相似文献   

12.
M H Mangi  G J Mufti 《Blood》1992,79(1):198-205
Material from 63 cases with primary myelodysplastic syndromes (P-MDS) (French-American-British [FAB] types: refractory anemia [RA] = 21; RA with ring sideroblasts [RARS] = 8; RA with excess of blasts (RAEB) = 10; RAEB in transformation (RAEBt) = 6; chronic myelomonocytic leukemia [CMML] = 10 and unclassifiable = 8, ie, bone marrow aspiration was inadequate and stringent FAB criteria were not applicable) was analyzed for bone marrow histologic and immunohistochemical patterns. Standard Giemsa, hematoxylin and eosin (H&E) and reticulin stains were used for morphologic assessment. To identify the cell lineage precisely, chloroacetate esterase staining and an indirect immunoperoxidase technique using mouse monoclonal antibodies CD15, CD68, HLA-DR, and rabbit polyclonal CD3 and UEA-1 (lectin) was developed on formalin-fixed paraffin embedded bone marrow biopsies (BMB). The immunohistochemical assessment permitted accurate identification of dysplastic features such as mononuclear and binuclear megakaryocytes, Pelger-Huet neutrophils, and binuclear erythroblasts. Additional bone marrow histologic and immunohistochemical features observed were heterogeneity of immunohistochemical staining in various cell lineages, megakaryocytic emperipolesis, alteration of bone marrow microarchitecture, intravascular clusters of hematopoietic cells, and the types of benign lymphoid aggregates. The nature of abnormally localized immature precursors (ALIP) was discerned. Three types of clusters of immature cells were found that were difficult to distinguish on Giemsa and H&E morphology, these were erythroid aggregates (n = 18); megakaryocytic aggregates (n = 4), and immature granulocytic and monocytic aggregates (n = 32). The bone marrow histologic and immunohistologic patterns permitted the identification of four groups of clinical relevance: Group 1, cases with predominant erythroid hyperplasia and without ALIP (n = 15); group 2, cases with prominent myeloid hyperplasia and presence of ALIP (n = 32); group 3, cases with hypoplastic MDS (n = 10); and group 4, cases with hyperfibrotic MDS (n = 6). Statistical analysis showed a significant difference in survival and leukemic transformation between groups 1, 2, 3, and 4, with cases in group 2 showing the worst prognosis with early death due to increased propensity to leukemic transformation and cytopenia-related complications (P less than .0001). We conclude that immunohistochemistry is feasible on routinely processed BMB and the information obtained is of diagnostic and prognostic importance in P-MDS. The phenotype of ALIP varies with the morphologic and histologic subtypes of MDS and the term should be reserved for cases in whom the clusters in the intertrabecular region are of myeloid (granulocytic and monocytic) lineage on immunohistochemistry.  相似文献   

13.
骨髓增生异常综合征骨髓细胞免疫表型的探讨   总被引:10,自引:1,他引:10  
用流式细胞术分析45例原发性骨髓增生异常综合征(MDS)患者和10例良性血液病病人的骨髓细胞免疫表型。结果:88.9%MDS表现二系或二系以上免疫标志异常,基中CD2、CD71、CD13、CD33、HLA-DR、CD34免疫标志变化最大,明显高于对照组(P<0.01)。RA组:CD2、CD71(P<0.05)、HLA-DR(P<0.01)明显高于对照组;RAEB:除上述标志同RA外,髓系相关标志CD13、CD33(P<0.01)和干/祖细胞标志CD34明显增高(P<0.05);RAEB-t组:髓系相关标志CD13(P<0.05)、CD33(P<0.01)和干/祖细胞标志CD34、HLA-DR(P<0.01)表达率增高。CD15:HLADR与CD15:CD34比值在RAEB-t最低。  相似文献   

14.
A 17 year old male was admitted because of pancytopenia. Bone marrow aspiration revealed myelodysplasia, no increase of blast cells and excessive expansion of megakaryocytic lineage. Although mild increase of bone marrow reticulin fiber was observed, no hepatosplenomegaly was recognized. Therefore he was diagnosed as refractory anemia (RA) or MDS with myelofibrosis and treated with low dose Ara-C regimen. Remission was achieved in June 1987, but the relapse occurred in Oct. 1987. His bone marrow at the relapse showed more remarkable dysplastic change than before. Sequential bone marrow examinations thereafter, revealed an increase of megakaryocytic lineage, especially immature dysplastic megakaryocytes, leading to the appearance of the abnormal megakaryoblasts (detected with anti GP IIb/IIIa antibody) as well as uncharacterized blast cells in his terminal stage. Transformation from MDS to megakaryocytic leukemia was strongly suggested. He died of severe pneumonia in March 1989. The invasion of abnormal immature megakaryocytic cells including megakaryoblasts was observed in liver, spleen and lymph nodes at autopsy. There are several reports on cases having a common hematological features such as 1) pancytopenia in peripheral blood, 2) myelodysplasia, 3) excessive growth of megakaryocytic lineage, 4) myelofibrosis without hepatosplenomegaly, although other clinical features were different. We propose all these cases should be reviewed at the point of MDS mainly involved in megakaryocytic lineage.  相似文献   

15.
The myelodysplastic syndromes (MDS) are a group of closely related disorders characterized by chronic cytopenias with cellular marrow, poor prognosis and refractoriness to treatment. We studied 101 consecutive cases of MDS diagnosed over a 7-year period. Peripheral blood (PB) and bone marrow (BM) samples were reviewed and classified according to the proposals of the French-American-British (FAB) cooperative group for MDS. The combined analysis of the initial laboratory features and qualitative haematological abnormalities readily allowed the distinction between the different subgroups. Thirty-two of 79 cases (40.5%) evolved towards other diseases, frequently acute leukaemia (24/79, 30%), or transformed into other MDS (7/79, 9%). In five cases, initially classified as refractory anaemia (RA) or refractory anaemia with ring sideroblasts (RAS), a transitory change to another type of MDS--two chronic myelomonocytic leukaemias (CMML), two refractory anaemias with excess of blasts (RAEB) and one refractory anaemia with excess of blasts 'in transformation' (RAEB-t)--was observed before the evolution towards acute leukaemia. This provides a new link between all these syndromes and increases the number of transitions to other MDS. Overall prognosis was very poor, with differences between subgroups. RA had the best prognosis whereas RAEB-t had the worst one. This study shows that the FAB classification is readily usable and defines well-characterized subgroups of MDS, although there are frequent transitional forms, and as the natural history of the MDS unfolds they may convert into another. The actual poor prognosis and the frequent evolution towards acute leukaemia makes necessary to investigate new methods of treatment for these disorders.  相似文献   

16.
BACKGROUND: Myelodysplastic syndrome (MDS) is predominantly a disease of old age. The number of MDS cases diagnosed over the last 20 years has risen substantially due to increased awareness and improved geriatric care. Although MDS is increasingly diagnosed, the prevalence and prognosis of early-stage affected elderly are not completely known. OBJECTIVE: To evaluate the prevalence, characteristics and prognosis of newly diagnosed MDS patients hospitalized in an acute and subacute geriatric department. METHODS: Between 1993 and 1996, 3,275 patients hospitalized in the geriatric department of a teaching hospital for acute care or short-term rehabilitation were investigated for unexplained hematological abnormalities. Demographic, chronic comorbidities, cause of hospitalization, functional and cognitive status, hematological and other laboratory parameters were collected. RESULTS: Two hundred and forty-five (7.5%) patients had unexplained cytopenia, macrocytosis or monocytosis, of whom 37 (15%) were diagnosed as having MDS. Only 9 patients were hospitalized for evaluation of anemia, 28 for infections, cardiac, cerebrovascular events and other causes. Thirty-four patients had refractory anemia (RA), two had RA with ringed sideroblasts and 1 had RA with an excess of blasts (RAEB). The follow-up period was up to 70 months. No differences were found between demented and cognitively normal patients in age, sex, comorbidities or laboratory parameters. Comparison of survival curves (excluding the RAEB case) according to demographic, clinical and hematological parameters has shown that only dementia adversely affects survival, compared to cognitively normal patients (p = 0.024). CONCLUSIONS: MDS of the RA type is a common and incidental finding in older hospitalized patients. It is a frequent cause of anemia and other hematological abnormalities but has less significance on survival rates than dementia, although its full impact remains to be determined.  相似文献   

17.
BACKGROUND: Although alcohol abuse is known to create a variety of adverse effects on hematopoiesis, the associations between ethanol consumption and hematological abnormalities have not been fully established. METHODS: We studied 144 consecutive adult patients who underwent clinical and bone marrow examinations due to abnormal findings in peripheral blood cell counts or red blood cell indices without previously established diagnoses of specific hematological diseases, malignancies, or infections. Assessment included the amount of alcohol consumption, complete blood cell counts, morphological review of peripheral blood and bone marrow, markers of liver status, and erythrocyte folate and serum vitamin B12 levels. RESULTS: There were 57 (40%) patients who showed a history of hazardous drinking and 87 patients who were either nondrinkers or social drinkers. The incidence of anemia was 51% in the alcohol abusers, as compared with 69% of the nonalcoholics (p < 0.05). A diverse pattern of hematological effects was observed in the alcohol abusers. Abnormal platelet and leukocyte levels were common, especially in the anemic alcoholics. Both increased mean cell volume of erythrocytes (macrocytosis; 67 vs. 18%; p < 0.0001) and mean cell hemoglobin (63 vs. 22%; p < 0.0001) were more frequent in the alcoholics than in the nonalcoholics. Reticulocytosis (37%), thrombocytopenia (41%), and combined cytopenias (34-38%) were also common findings in the alcoholic patients. The blood smears from such patients typically showed round macrocytes, stomatocytes, and knizocytes. Bone marrow aspirates revealed vacuolization of pronormoblasts in 24% of the alcoholic patients. Interestingly, megakaryocytes in the cell periphery were also vacuolized in 20% of the alcohol abusers, especially in those with recent intoxication. CONCLUSIONS: Our findings suggest that alcohol abuse results in diverse patterns of hematological effects and affects several cell lines. Therefore, in patients undergoing bone marrow examinations due to cytopenias, the probabilities for likely findings seem to be different between alcoholics and nonalcoholics. Information on ethanol consumption should be systematically included in the clinical assessment of such patients.  相似文献   

18.
The diagnosis of myelodysplastic syndromes (MDS) is based upon cytopenias, morphologic dysplasia, and cytogenetic abnormalities. Because morphologic dyspoiesis may be subtle, and many cases have normal cytogenetics, additional objective diagnostic tools are needed. We previously developed a novel peripheral blood neutrophil flow-cytometric (FCM) scoring system to identify patients with MDS. Here, in an analysis of 25 patients, we demonstrate that FCM abnormalities are independent of currently measured parameters in MDS, including cytopenias, marrow blast percent, and IPSS score. Importantly, FCM abnormalities were seen in 9/16 MDS patients with normal cytogenetics, suggesting that this simple, non-invasive assay could play a central role in the diagnosis of MDS.  相似文献   

19.
A 56-year-old man had a leiomyosarcoma of the small intestine in 1987. After surgery, he received cyclophosphamide for 2 years. In December, 1990, he exhibited severe pancytopenia. His hematological data were as follows: Hb 7.4g/dl, ret. 0.8%, WBC 1,700/microliters with leukoerythroblastosis and 2.8 x 10(4)/microliters platelets. A bone marrow aspiration was a dry tap. A bone marrow biopsy specimen showed a hypercellular marrow with myelofibrosis, leukemic infiltration (10.2%) and slight dyserythropoiesis. Both PPO and GPIIb/IIIa reaction were positive for blast cells and atypical megakaryoblasts. A diagnosis of MDS with an abnormality in megakaryocytic lineage was made. The patient was treated with 1,25-dihydroxy-vitamin D3, however this therapy was temporary and he developed into acute megakaryoblastic leukemia (M7). This report suggested that some cases of therapy-related leukemia (TRL) mainly involve megakaryocytic lineage and are diagnosed as MDS with myelofibrosis which transform to M7. The fact that PAS stain of erythroblasts in the patient reported here was positive may suggest involvement of development of more precise immunological markers of differentiation and EM study will permit better diagnosis of TRL and may therefore facilitate new therapeutic approaches.  相似文献   

20.
Myelodysplastic syndrome with eosinophilia in bone marrow   总被引:2,自引:0,他引:2  
Summary. Clinical features were investigated in 114 patients with de novo myelodysplastic syndrome (MDS) diagnosed over the past 10 years, and eight cases (7%) were complicated with eosinophilia in the bone marrow. Two patients had refractory anaemia (RA), five had RA with excess of blasts (RAEB), and one had RAEB in transformation. Their bone marrow cells exhibited trilineage dysplasia and morphological abnormalities in eosinophils. Cytogenetics revealed major karyotype abnormalities (MAKA) in five patients. Survival durations were significantly shorter than those of other MDS patients. Our study suggests that marrow eosinophilia in MDS is strongly related to the coexistence of MAKA.  相似文献   

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