Coulombel L, Derycke M, Villeval J L, Leonard C, Breton-Gorius J, Vial M, Bourgeois P, Tchernia G
Br J Haematol. 1987 May;66(1):69-76. doi: 10.1111/j.1365-2141.1987.tb06892.x.
The phenotype and in vitro growth properties of blood and marrow blast cells detected in two neonates with Down's syndrome and a transient leukaemic picture are presented. In both patients, blast cells at diagnosis were heterogeneous and expressed predominantly megakaryocyte and erythroid markers identified by membrane fluorescence using monoclonal antibodies or ultrastructural detection of platelet peroxidase and ferritin. An additional trisomy involving chromosome 22 was detected in blast cells from one patient. Blood and marrow cells colony-assays performed at diagnosis revealed precursors with an abnormal differentiation capacity similar to those found in acute myelogenous leukaemia colony assays. However, an unusual feature was the persistence of high numbers of precursor cells (namely erythroid) following a normal differentiation pathway. Phenotypically and cytogenetically abnormal cells spontaneously disappeared by week 4-6, but overt relapse occurred in one patient 20 months later. These results bring strong arguments in favour of the neoplastic nature of the transient leukaemic picture observed in some neonates with Down's syndrome. Furthermore, we suggest that this disorder can be individualized as a separate entity with specific phenotypic and biological properties.
本文报道了在两名患有唐氏综合征且呈现短暂白血病表现的新生儿中检测到的血液和骨髓原始细胞的表型及体外生长特性。在这两名患者中，诊断时的原始细胞具有异质性，主要表达通过单克隆抗体膜荧光鉴定或血小板过氧化物酶和铁蛋白超微结构检测确定的巨核细胞和红系标志物。在一名患者的原始细胞中检测到额外的22号染色体三体。诊断时进行的血液和骨髓细胞集落测定显示，前体细胞具有与急性髓性白血病集落测定中发现的类似的异常分化能力。然而，一个不寻常的特征是大量前体细胞（即红系）沿着正常分化途径持续存在。表型和细胞遗传学异常细胞在第4至6周时自发消失，但其中一名患者在20个月后出现明显复发。这些结果有力地支持了在一些患有唐氏综合征的新生儿中观察到的短暂白血病表现具有肿瘤性质的观点。此外，我们建议将这种疾病作为一个具有特定表型和生物学特性的独立实体进行个体化分类。
