临床表现 ◆长期血细胞减 血细胞减少相关的临床表现 感染、出血、贫血 ◆浸润症状和体征不及急性白血病
◆长期血细胞减少 ◆血细胞减少相关的临床表现： 感染、出血、贫血 ◆浸润症状和体征不及急性白血病
诊断程序 病史: ●首先排除引起血细胞减少的恶性疾病 前期化定、放疗,放射免疫治疗,放射性碘和职业或业余 暴露(苯 合并用药,饮酒,吸烟,出血和感染倾向 年轻患者 家族史:遗传性的骨髓衰竭性疾病,比如 Fanconi贫血和 端粒异常疾病 体格检查 血化验
病史： ⚫ 首先排除引起血细胞减少的恶性疾病 ⚫ 前期化疗，放疗，放射免疫治疗，放射性碘和职业或业余 暴露（苯） ⚫ 合并用药，饮酒，吸烟，出血和感染倾向 ⚫ 年轻患者 ⚫ 家族史：遗传性的骨髓衰竭性疾病，比如Fanconi贫血和 端粒异常疾病 体格检查 血化验
诊断程序 Haematology Bⅰ ochemis WBC count WBC full differential count RBC-folate/serum-folic acid · RBC count Cobalam in Hemoglobin Iron Platelet count Total iron binding capacity RBC indices(mean cell volume Ferritin · Reticulocyte count Lactate dehydrogenase RBC, leukocyte and platelet morphology Bilirubin Haptoglobin Virus Direct antiglobulin test(Coombs test) · Anti-HIV C-reactive protein Anti-parvovirus B19(hypoplastic MDS) · Alanine transaminase Cytomegalovirus test Aspartate Hepatitis B antigen and Antihepatitis C virus in · Transaminase transfusion-dependent patients ·A| kaline phosphatase Albumin Others Uric acid Creatinine Paroxysmal nocturnal hemoglobinuria clone Serum protein electrophoresis(seru Specific genetic analyses(in patients in whom immunoglobulins a suspicion about inherited bone marrow failure B2-microglobulin has been raised Thyroid function tests Hemoglobin electrophoresis
Haematology Biochemistry Virus Others
疑似MDS 排除引起血细胞减少的恶性疾病后,需要进一步确定 为MDS: 外周血形态学 ◆评估外周血细胞和骨髓造血前体的异常 骨髓活检以评估骨髓增生度,纤维化和细胞构成分 布 ◆细胞遗传学检测非随机染色体异常
◆外周血形态学 ◆评估外周血细胞和骨髓造血前体的异常 ◆骨髓活检以评估骨髓增生度，纤维化和细胞构成分 布 ◆细胞遗传学检测非随机染色体异常 排除引起血细胞减少的恶性疾病后，需要进一步确定 为MDS：
Table 2. Diagnostic approach to MDS Diagnostic tool Diagnostic value Priority Peripheral blood smear Evaluation of dysplasia in one or Mandabry more cell lines Enumera ton of blasts Bone marrow aspirate Evaluation of dysplasia in one or Mandabry more hematopoietic cell lines Enumeration of blasts Enumeraton of ring sideroblasts Bone marrow biopsy Assessment of cellularity, CD3 Mandabry ceils. and fibrosis Cytogenetic analysis Detecton of acquired clonal Mandatory chromosomal abnorma lities that can allow a conclusive diagnosis and also prognostic assessmem FISH Detection of targeted chromosomal Recommended abnomalities in interphase nuclei following repeated failure of standard G-banding Flow cytometry Detecon of abnormalities in Recommended immunophenotyping erythroid, immature myeloid maturing granulocytes monocytes, immature and mature lymphoid artments SNP array Detecton of chromosomal defects Suggested at a high resolution in combination with metaphase cytogenetics Mutation analysis of Detection of somatic mutations that Suggested candidate genes can allow a conclusive diagnosis and also rel iable prognostic evaluation