Duflos-Delaplace D, Laï J L, Nelken B, Genevieve F, Defachelles A S, Zandecki M
Service de Génétique Médicale, Hôpital Jeanne de Flandre, Lille, France.
Cancer Genet Cytogenet. 1999 Sep;113(2):166-71. doi: 10.1016/s0165-4608(99)00022-9.
A transient leukemoid disorder (TLD) was observed in a newborn with Down syndrome (DS), demonstrating a clonal abnormality: 47,XX,der(X;15)(p10;q10),+21(c). Spontaneous remission was observed, but 19 months later an acute leukemia from the myeloid series was discovered. Cytogenetic study revealed the same structural change as at birth, with karyotypic evolution corresponding to addition of one chromosome 8 and a fourth chromosome 21. These findings demonstrate, at least in our patient, that TLD and the subsequent acute leukemia are closely related and that TLD, closely related to DS, must be viewed as a preleukemic disorder undergoing spontaneous remission. A review of literature data shows that most cytogenetic studies reported so far are related to either TLD or acute leukemia in DS. Serial studies performed in the same patient are quite infrequent and, to the best of our knowledge, there is only one other report demonstrating a cytogenetic relation between TLD and the subsequent acute leukemia.
在一名患有唐氏综合征（DS）的新生儿中观察到一种短暂性类白血病疾病（TLD），显示出一种克隆异常：47,XX,der(X;15)(p10;q10),+21(c)。观察到自发缓解，但19个月后发现了一例髓系急性白血病。细胞遗传学研究显示与出生时相同的结构变化，核型演变对应于额外增加一条8号染色体和第四条21号染色体。这些发现表明，至少在我们的患者中，TLD与随后的急性白血病密切相关，并且与DS密切相关的TLD必须被视为一种正在经历自发缓解的白血病前期疾病。对文献数据的回顾表明，迄今为止报道的大多数细胞遗传学研究都与DS中的TLD或急性白血病有关。在同一患者中进行的系列研究非常少见，据我们所知，只有另一篇报告显示了TLD与随后的急性白血病之间的细胞遗传学关系。
