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2016年,世界卫生组织(WHO)对骨髓增生异常综合征(MDS)的细胞形态学重现性特征细化,并综合染色体、分子生物学变化及临床预后,对MDS分类进行了修订。取消以血细胞减少系列的名称,代以MDS伴相应病态造血、原始细胞和细胞遗传学异常。骨髓原始细胞比例以全髓有核细胞计,取消既往的“非红系”计算,使得过去符合急性红白细胞白血病再分类为MDS-EB。del(5q)预后良好,除外单体7和del(7q),再伴有1个额外核型异常亦不影响预后。在原始细胞增多和出现MDS典型染色体时,不需要形态学病态造血指标达标即可诊断MDS。SF3B1突变与MDS-环状铁幼粒红细胞(RS)关系紧密,使RS阈值降至5%。TP53突变或缺失则预后不良。NPM1和MLL阳性提示进展为AML。
In 2016, the World Health Organization (WHO) refined the cytomorphological features of myelodysplastic syndrome (MDS) and revised the classification of MDS based on a combination of chromosomal, molecular biological changes and clinical prognosis. Canceled with the name of the series of cytopenias, substituting MDS with corresponding morbid hematopoiesis, blasts and cytogenetic abnormalities. The percentage of myeloid blasts was calculated as whole myelinated nucleated cells and the previous “non-erythroid” calculations were canceled, making the past classification of acute erythroblastic leukemia into MDS-EB. Del (5q) has a good prognosis, with the exception of monomeric 7 and del (7q) with 1 additional karyotype abnormality and no effect on prognosis. MDS can be diagnosed without the need of morphological hematopoietic markers when the number of blasts increases and typical MDS occurs. The SF3B1 mutation is closely related to MDS-RBC (erythrocytes), reducing the RS threshold to 5%. Poor prognosis of TP53 mutations or deletions. NPM1 and MLL positive prompted the progress of AML.