Ishihara S, Nakakuma H, Kawaguchi T, Nagakura S, Horikawa K, Hidaka M, Asou N, Mitsuya H
Second Department of Internal Medicine, Kumamoto University School of Medicine, Japan.
Int J Hematol. 2000 Aug;72(2):206-9.
We report 2 paroxysmal nocturnal hemoglobinuria (PNH) patients who were initially diagnosed with aplastic anemia and sequentially developed PNH, myelodysplastic syndromes (MDS), and leukemia. Flow cytometry and cytogenetic analysis showed the initial appearance and expansion of PNH clones, gradual replacement of PNH clones by MDS clones with monosomy 7, and then expansion of MDS clones or their subclones with additional chromosomal abnormalities. In relation to these developments, expression increased of the Wilms' tumor gene WT1, a marker for leukemic progression. These patients not only shared bone marrow failure but also might have harbored a hematopoietic environment favorable for the emergence of abnormal clones leading to leukemogenesis.
我们报告了2例阵发性夜间血红蛋白尿（PNH）患者，他们最初被诊断为再生障碍性贫血，随后依次发展为PNH、骨髓增生异常综合征（MDS）和白血病。流式细胞术和细胞遗传学分析显示，PNH克隆最初出现并扩增，随后被伴有7号染色体单体的MDS克隆逐渐取代，然后伴有额外染色体异常的MDS克隆或其子克隆扩增。与这些病情发展相关的是，白血病进展标志物威尔姆斯肿瘤基因WT1的表达增加。这些患者不仅都有骨髓衰竭，而且可能具有有利于异常克隆出现并导致白血病发生的造血环境。
