《MDS诊断治疗指南》PPT课件.ppt

骨髓增生异常综合症的诊断和治疗指南

肖志坚
中国医学科学院
中国协和医科大学
血液学研究所血液病医院
1
医学PPT
Multistep pathogenesis of MDS
◆ Pre MDS phase
MDS initiation: enviromental, occupational or toxic exposure in genetically susceptible individuals
◆ Early MDS phase
Immunologic response to damaged cells
◆ Late MDS phase
Diminution of cell cycle control and genomic instability→development of secondary AML
◆ MDS-related AML
2
医学PPT
发生MDS的易感性
◆某些遗传性疾病，如Fanconi贫血、Ⅰ型神经纤维瘤病，其家系中MDS/AML发生率明显高于一般人群
◆家族性血小板病伴发白血病（FPD/AML）家系中易发生MDS/AML，其易感位点已被定位于21q22，累及CBFA2（AML1）基因
◆ 7单体综合征（家族性MDS伴有7q异常）的7q异常不是本综合征的原发原因；其原发性易感位点是在目前尚无法检测的其他染色体部位
◆苯醌氧化还原酶（NQO1）在解毒苯代谢产物中有重要作用，编码此酶的NQO1基因有多态性。苯接触者如其NQO1基因为609（C→T）无功能型等位基因，则发生MDS/AML的危险性增高
3
医学PPT
Enviromental or occupational risk factor for progenitor-cell damage
Benzene dose-related,constant exposure,recent
exposure(<10 years)
dose-related cytogenetic abnormalities:5q-,
7q-,+8,+21,t(8;21)
Pesticides odds ratoi
Organic solvents exposure marginally associated with the
risk(OR:)
Smoking risk increased with during and intensity of
smoking(↑risk for“cecent” smoker; ↑risk
for RA and RARS; ↑risk for chromosome 7
abnormalities
4
医学PPT
Cytogenetic abnormalities in MDS according to enviromental or occupational exposure
Odds ratoi for all exposure higher among cytogenetically
abnormal() than normal()
Type of exposure
semi-metals(As)
Inorganic dusts(asbestos,silica,fomica)
metal(Cu,Ni,Sn,steel)
Organics
radiation
Relationship of type of exposure to specific cytogenetics
radiation, metal,organics →chromsome 8
inorganic fumes →chromosome 5 and 7
5
医学PPT
Therapy-related myelodysplastic myel