MDS分类

nullMDS分类与诊断MDS分类与诊断兰大二院 张连生MDS Classification and DiagnosisMDS Classification and DiagnosisRefractory cytopaenia with unilineage dysplasia(RCUD) 难治性血细胞减少伴一系病态造血 Refractory anaemia with ring sideroblasts(RAS) 难治性贫血伴环形鉄粒幼红细胞增多 Refractory cytopaenia with multilineage dysplasia(RCMD) 难治性血细胞减少伴多系病态造血 Refractory anaemia with excess blasts(RAEB) 难治性血细胞减少伴原幼细胞增多 Myelodysplastic syndrome with isolated del(5q) (MDS 5q-) MDS-5q-综合症 Myelodysplastic syndrome, unclassifiable(MDS-U) MDS不能分类 Refractory cytopaenia of childhood(RCC) 儿童难治性贫血MDS Classification and DiagnosisMDS Classification and Diagnosis* ﹤1×109 monocyte △ Even if BM Blasts ﹤5%MDS-F/MDS-hypocellularity ICUS( idiopathic cytopaenia of undetermined significance)The “minimal” morphologic criteria for the diagnosis of MDSThe “minimal” morphologic criteria for the diagnosis of MDSat least 10% of the cells of at least one myeloid BM lineage (erythroid, granulocytic, megakaryocytic) must show unequivocal dysplasia Causes of secondary dysplasia as well as congenital abnormalities such as congenital dyserythropoietic anemia should be excluded before a diagnosis of MDS is renderednullIf a patient has cytopenia(s) but not dysplasia a presumptive diagnosis of MDS can be made if a specific clonal chromosomal abnormality is present (table 6) nullnullIt is important to note that some recurring cytogenetic abnormalities observed in MDS, particularly del(20q), +8, and -Y, are not included in the list. These abnormalities have been reported to occur in some patients with aplastic anemia or other cytopenic syndromes who have a good response to immunosuppressive therapy and/or who show no morphologic evidence of MDS with prolonged follow-upnullIf only unilineage dysplasia but no listed cytogenetic abnormalities, and no blasts increased, and RS＜ 15% Observe 6 months and repeat bone marrow investigation is recommended prior to making the diagnosis of MDS Ensure that the clinical and morphologic features persist. Not secondary to any other disorder that emerges in that periodnullDiagnostic problems can arise when the clinical and laboratory findings suggest MDS but the morphologic findings are inconclusive Secondary dysplasia caused by nutritional deficiencies, medications, toxins, growth factor therapy,inflammation or infection; or when marrow hypocellularity or myelofibrosis obscures the underlying disease processnull Despite clarifications of the diagnostic criteria for MDS, there will be a number of patients with persistent cytopenia(s) who lack sufficient morphologic or cytogenetic evidence for a definitive diagnosis of MDS. Some authors have suggested the term “idiopathic cytopenia of undetermined significance” (ICUS) for such cases. Although this term is reasonable, it should be construed not as an entity in the WHO classification of MDS, but as a description for patients who do not fulfill the minimal WHO criteria. These patients should be carefully monitored for emerging morphologic or cytogenetic evidence of MDS.nullICUS (idiopathic cytopaenia of undetermined significance) persistent cytopaenia without cytogenetic changes or dysplasia, Exclusion of reactive conditions drug or toxin exposure infections immunological disorders vitamin deficiencies nullHypocellular MDS A minority of patients with MDS initially have hypocellular or myelofibrotic bone marrow specimens. Hypoplastic MDS has no independent prognostic significance per se, but such cases can pose diagnostic problems because they may show some morphologic similarities with aplastic anemia, such as macrocytic red blood cells MDS with myelofibrosis (MDS-F) Difficult differentiation:Dysplasia/blast myeloid neoplasms with fibrosis (acute megakaryocytic leukemia) CD34 immunohistochemistry in the BM biopsy, and cytogenetic findings are usefull MDS with hypocellularity or fibrosisFACSFACSWhether phenotypic abnormalities demonstrated by flow cytometry,such as asynchronous expression of maturation-associated antigens on myeloid cells, are diagnostic of MDS when morphologic features are inconclusive was considered at the CAC meeting The consensus was that, although numerous authors have reported aberrant antigen expression patterns characteristic for MDS cells,sufficient numbers of cases with secondary dysplasia have not been adequately evaluated so that it can be proved that the changes are specific for MDS. Until such data are available, it is recommended that, if 3 or more phenotypic abnormalities are found involving one or more of the myeloid lineages the findings can be considered as“suggestive” of MDS, but in the absence of conclusive morphologic and/or cytogenetic features, flow cytometric abnormalities alone are not diagnostic of MDS. Patients whose cells exhibit aberrant phenotypic features suggestive of MDS should be carefully followed for morphologic features sufficient to substantiate the diagnosis. Significant changes in the diagnosis and classification of MDSSignificant changes in the diagnosis and classification of MDS1. Patients with refractory cytopenia(s) suspected to have MDS, but who lack diagnostic morphologic features may be considered to have presumptive evidence of MDS if they have specific MDSrelated cytogenetic abnormalities. 2. An over-arching category of MDS, refractory cytopenia with unilineage dysplasia, has been added to incorporate patients who exhibit unilineage dysplasia associated with refractory anemia (unilineage erythroid dysplasia), refractory neutropenia (unilineage dysgranulopoiesis), or refractory thrombocytopenia (unilineage dysmegakaryocytopoiesis), and who have fewer than 1% blasts in the blood and fewer than 5% in the bone marrow. 3. The category of refractory cytopenia with multilineage dysplasia is no longer subdivided according to whether 15% or more of the erythroid precursors are ring sideroblasts (RS), that is, the former category of RCMD-RS is now incorporated in RCMD. 4. Patients with 2% to 4% blasts in the blood and less than 5% blasts in the bone marrow should be diagnosed as having RAEB-1 if other clinical and laboratory findings of MDS are present. 5. A provisional entity, refractory cytopenia of childhood (RCC), has been added to include children with cytopenia(s) with less than 2% blasts in the peripheral blood and less than 5% in the bone marrow and evidence of dysplasia in 2 or more lineages. For children with 2% to 19% blasts in the blood and/or 5% to 19% in the bone marrow, the MDS subclassification should be made using the same criteria used for adults.