骨髓增生异常综合征.ppt

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1、Myelodysplastic syndromes(MDS)骨髓增生异常综合征骨髓增生异常综合征Content Definition（定义）History（历史）Etiology（流行病学）Classifications（分类）Pathogenesis（发病机理）Diagnosis and differential diagnosis（诊断）Treatment（治疗）Definition Myelodysplastic syndrome(MDS)is a clonal disorder characterized by ineffective hematopoiesis,which led t

2、o either fatal cytopebias or acute myelogenous leukemias(AML)克隆性疾病、无效造血、致命性血细胞减少症或急性髓细胞白血病演变 Pathogenetically related to about half of AML cases,especially in older patients 常见于老年人 Clinical features of MDS,are usually presented by bone marrow failure通常表现为骨髓衰竭 Peripheral blood cytopenias in combinati

3、on with a hypercellular bone marrow exhibiting dysplastic changes are the hallmarks of MDS.History 1941,Bomford and RhoadsRefractory anemia(RA)1953,BlockProgression to leukemia(PL)1956,BjrkmanRefractory anemia with ringed sideroblats(RARS)1970,DreyfusRefractory anemia with excess blats(RAEB)1974,Mie

4、scher Chronic myelomonocytic leukemia(CMML)1976,FAB cooperative group-the definition of Myelodysplatic syndrome(MDS)1982,FAB cooperative group-the diagnosis and classification of MDS 1987,BennerMorphological,Immunogical,and Cytogenetic classification of MDS 2000,World Health Organization(WHO)MDS is

5、categorized to myeloid malignances Etiology The incidence curves for populations at risk for AML and MDS are similar in shape,with MDS exceeding AML and with a potential increase for both with advancing age.Similar to AML,the sex distribution of MDS is approximately equal until age 60,after which a

6、substantial male predominance develops.MDS-related AML,a subtype of AML,mirrors the incidence of AML,including the progressive male predominance that develops with advancing age beyond 60 years.Classification-FAB In 1982,the French-American-British(FAB)Cooperative Group classified five subtitles of

7、MDS Refractory anemia(RA)Refractory anemia with excess of blasts(RAEB)Refractory anemia with excess of blasts in transformation(RAEB-T)Refractory anemia with ringed sideroblasts(RARS)Chronic myelomonocytic leukemia(CMML)Classification-WHO The classification based on morphologic criteria was revised

8、resulting in WHO classification,which provides more homogenous MDS categories but eliminates the“RAEB-T”category.The better prognosis of patients with an isolated cytogenetic aberration at 5q was identified as 5q-Patients with 10%BM blasts have a shorter median survival and a higher transformation r

9、ate to AML as compared to those with 10%blasts,RAEB is divided into two subgroups,RAEB-1 and RAEB-2,depending on the number of blasts in BM and PB.In addition to the number of blast cells,the presence of Auer robs can be predictive for RAEB-2.Classification-WHOComparison of FAB and WHO classificatio

10、ns of MDSInternational Prognostic Scoring System(IPSS)The initial chromosomal aberration,the age of patients,and the number and severity of the cytopenia are important to evaluate the prognosis of MDS as summarized in IPSS.The median survival of MDS patients according to this classification ranges f

11、rom 6 years for low-risk to 6 months for high-risk patients.Therefore,the implication of this scoring system in any clinical trial evaluating treatment options in MDS is now a standard requirement.International Prognostic Scoring System for Risk Assessment in Primary MDSIPSS Groups and OutcomesMorph

12、ologic features of MDSA variety of morphologic abnormalities of all three hematoloietic lines are found in blood and marrow in MDS.In peripheral blood,common findings in red cells are macrocytic or dimorphic(macrocytic and normocytic)populations,basophilic stippling,and nucleated red blood cells.Gra

13、nulocytes may have Pelger-Huet morphology,hepersegmentation,hypogranulation,and immature forms.Platelets may be large,agranular,or vacuolated.In marrow,additional erythroid changes are megaloblastoid changes(nucleocytoplasmic asynchrony),irregular nuclear shapes,bi-or multinucleation,ringed and abno

14、rmal siderob;asts,PAS positivity,and internuclear bridging(INB).Additional granulocytic changes include megaloblastoid or blocked maturation and loss of MPO reactivity.Megakaryocytes may be small woth single or multiple small nuclei,larger and monolobate,or large with large,hyperchromatic,irregular

15、nuclei.Immature cells in peripheral blood may show most of the same features as marrow cells.DysplasiaHypogranulationMultinuclearityNegative for neutrophil myeloperoxidase Morphologic features of MDSRefractory anemia(marrow clot section)HyperproliferationRefractory anemia(marrow smear)Ineffective er

16、ythropoiesisRefractory anemiaWith ringed sideroblasts(iron staining)Morphologic features of MDSRefractory anemiaWith excess blasts(RAEB-1)Marrow blasts 59%Refractory anemia with excess blasts(RAEB-2)Marrow blasts 1019%Transformation(Progression)to leukemiaMarrow blasts20%Application of immunophenotyping to MDSIn additional to acquired morphologic functional,cytogenetic,and production abnormalities,marrow cells in MDS frequently demonstrate aberrant patterns of differentiation antigen expression