急性淋巴细胞白血病患儿中结构染色体重排及高超二倍体小细胞克隆的预后价值
Prognostic value of structural chromosomal rearrangements and small cell clones with high hyperdiploidy in children with acute lymphoblastic leukemia.
作者信息
Zemanova Zuzana, Michalova Kyra, Sindelarova Lenka, Smisek Petr, Brezinova Jana, Ransdorfova Sarka, Vavra Vladimir, Dohnalova Alena, Stary Jan
机构信息
Center of Oncocytogenetics, Institute of Clinical Biochemistry and laboratory diagnosis, General Faculty Hospital and 1st Faculty of Medicine of Charles University, 12808 Prague 2, Czech Republic.
出版信息
Leuk Res. 2005 Mar;29(3):273-81. doi: 10.1016/j.leukres.2004.07.004.
In this study, 107 children with acute lymphoblastic leukemia (ALL) were analysed for the presence of hyperdiploidy by cytogenetics and interphase fluorescence in situ hybridisation (I-FISH). Structural aberrations in hyperdiploid cells were investigated by multiple colour FISH (mFISH). Clones with high hyperdiploidy (>50 chromosomes) (HeH) were found in 46 patients (43%). In nine of these (20%), the abnormal clone was present in <20% of the total cell population. There was no significant difference in EFS between those patients with HeH in 2.5-20% or >20% of cells. Structural rearrangements in the HeH clone were found in 10 patients (22%). In this study, HeH karyotypes containing structural aberrations were an indication of a poor prognosis in childhood ALL.
在本研究中，通过细胞遗传学和间期荧光原位杂交（I-FISH）对107例急性淋巴细胞白血病（ALL）患儿进行了超二倍体检测。采用多色FISH（mFISH）研究超二倍体细胞中的结构畸变。46例患者（43%）中发现了高超二倍体（>50条染色体）（HeH）克隆。其中9例（20%）异常克隆在总细胞群体中的占比<20%。HeH克隆在细胞中占2.5%-20%或>20%的患者之间，无事件生存期（EFS）的显著差异。10例患者（22%）的HeH克隆中发现了结构重排。在本研究中，含有结构畸变的HeH核型提示儿童ALL预后不良。
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