Myelodysplastic Syndrome MDS email wuyuscu edu cn 18980601973
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Myelodysplastic Syndrome 骨髓增生异常综合征(MDS) 四川大学华西医院 血液内科 吴俣 教授 研究生导师 email: wu_yu@scu. edu. cn 18980601973
Half of What We Taught You Is Wrong: The Problem Is We Don't Know Which Half
Definition n Myelodysplastic syndrome (MDS) comprises a heterogeneous group of hematopoietic stem cell malignancies resulting in variable degrees of cytopenias with a tendency to progress to acute myeloid leukemia (AML). Pathologically, the disease is characterized by abnormal morphology and cytologic dysplasia. n The MDS are a group of clonal BM neoplasms characterized by ineffective hematopoiesis, manifested by morphologic dysplasia inhematopoietic cells and by peripheral cytopenia(s). l 干细胞疾病 高度异质性 克隆性疾病 l 病态造血 血细胞减少 l 向AML转化高风险 BLOOD, 19 MAY 2016 x VOLUME 127, NUMBER 20
Pathogenesis n Primary MDS—— Unclear n Secondary MDS therapy-related n Cytogenetic abnormality n Oncogene activation , mutation such as SF 3 B 1, TET 2, SRSF 2, ASXL 1, DNMT 3 A, RUNX 1, U 2 AF 1, TP 53, and EZH 2. n Tumor Suppressor gene inhibition n Epigenetics DNA methylation
The Lancet,2014
MDS and clonal evolution
MDS and Clonal evolution
MDS分型 n FAB分型(5) n 2008 WHO分型(7) n RA n RCUD n RARS n RAEB n RCMD n RAEBT n RAEB-1 n CMML n RAEB-2 n 5 qn MDS-U
5 q- syndrome
Ringed Sideroblasts
Figure Complex karyotype of an MDS patient. This karyotype from a case of RAEB-2 includes, among other aberrations, a del(5 q) and monosomy 7.
The 2016 Revision of WHO Classification of MDS
鉴别诊断 n 再生障碍性贫血 n PNH n 巨幼细胞性贫血 n 免疫相关全血细胞减少 n AL和CML n reactive causes of cytopenia and dysplasia
Myeloproliferative Neoplasms 骨髓增殖性肿瘤(MPN)
Myeloproliferative neoplasms and myelodysplastic syndromes. Tariq I. Mughal et al. Haematologica 2015; 100: 1117 -1130 © 2015 by Ferrata Storti Foundation
真性红细胞增多症(PV Polycythemia vera
原发性血小板增多症(PT,ET) Primary Thrombocythemia
WHO诊断标准 n Plt≥ 450*109/L n PT 骨髓象 n 克隆标志 JAK 2 V 617 F, CALR, or MPL mutation n 排除其他MPN,MPDS n 排除继发性血小板增多
原发性骨髓纤维化(MF) Myelofibrosis
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