Dörmer P, Hershko C, Voss R, Wilmanns W
Institut für Experimentelle Hämatologie, München, F.R.G.
Br J Haematol. 1987 Oct;67(2):141-6. doi: 10.1111/j.1365-2141.1987.tb02317.x.
The evolution of leukaemia was studied prospectively in 29 patients with myelodysplastic syndrome (MDS) followed for 2-6 years by sequential blast counts, cell kinetics derived from quantitative 14C-autoradiography and karyotype analysis. Overt leukaemia developed in seven patients. Two distinct patterns of leukaemic evolution were identified. The first was characterized by a gradual increase in blast cell count and in the frequency of labelled blasts, and a corresponding reduction in myeloid maturation index indicating increased intracompartmental myeloblast divisions and premature myeloid cell death. A second pattern of leukaemic evolution was marked by a sudden rise in the blast cell population in a previously stable MDS. This rise was attributed both to an increased rate of blast proliferation, and the accumulation of non-proliferating blasts. In an additional patient with smouldering ANLL and multiple karyotype abnormalities, transient clinical remission took place following prednisone and oxymetholone therapy, characterized by a sideroblastic morphology, normal karyotype, and persistence of a highly abnormal myeloid maturation index. The sudden emergence of overt leukaemia in previously stable MDS in some of our patients and the temporary reversal of overt leukaemia into sideroblastic anaemia in one case, lend support to the notion of leukaemic evolution by several steps of transformation. On the other hand, the gradual transition of MDS into overt leukaemia in other patients is compatible with a single step leukaemia transformation, although the possibility of clonal disease prior to the development of MDS cannot be excluded with certainty.
对29例骨髓增生异常综合征（MDS）患者进行了前瞻性白血病演变研究，通过连续的原始细胞计数、源自定量¹⁴C - 放射自显影的细胞动力学和核型分析，随访2至6年。7例患者发生了明显的白血病。确定了两种不同的白血病演变模式。第一种模式的特征是原始细胞计数和标记原始细胞频率逐渐增加，同时髓系成熟指数相应降低，表明隔室内髓母细胞分裂增加和髓系细胞过早死亡。第二种白血病演变模式的特点是在先前稳定的MDS中原始细胞群体突然增加。这种增加既归因于原始细胞增殖速率的提高，也归因于非增殖性原始细胞的积累。在另外一名患有冒烟型急性非淋巴细胞白血病（ANLL）且有多种核型异常的患者中，泼尼松和羟甲烯龙治疗后出现了短暂的临床缓解，其特征为铁粒幼细胞形态、正常核型以及持续存在高度异常的髓系成熟指数。我们的一些患者在先前稳定的MDS中突然出现明显的白血病，以及一例中明显的白血病暂时逆转为铁粒幼细胞贫血，支持了白血病通过几个转化步骤演变的观点。另一方面，其他患者中MDS逐渐转变为明显的白血病与单步白血病转化相符，尽管不能完全排除在MDS发生之前存在克隆性疾病的可能性。
