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在急性淋巴细胞白血病中对遗传变化的全基因组分析

Charles G Mullighan¹, Salil Goorha, Ina Radtke

¹Department of Pathology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.

|March 9, 2007

概括

关键B细胞发育基因的基因突变,特别是PAX5,在儿科急性淋巴细胞白血病 (ALL) 中很常见. 这些变化破坏了B淋巴细胞通路,导致白血病的发展.

科学领域:

遗传学是一个遗传学.
在瘤学瘤学.
分子生物学分子生物学

背景情况:

染色体异常是急性淋巴细胞白血病 (ALL) 的特征,但不足以诱导疾病.
识别合作的瘤性病变对于理解ALL的发病过程至关重要.

研究的目的:

为了识别儿科B原体ALL的合作性瘤性病变.
研究基因变异在B淋巴细胞发育和分化途径中的作用.

主要方法:

来自242名儿科ALL患者的白血病细胞的全基因组分析.
利用高分辨率的单核酸多态阵列和基因组DNA测序.

主要成果:

在40%的B原始ALL病例中,确定了B淋巴细胞发育调节者的遗传变化 (删除,放大,突变,重新排列).
最常见的是PAX5基因突变 (31.7%),导致蛋白质水平降低或低形态等位基因.
在TCF3,EBF1,LEF1,IKZF1和IKZF3基因中观察到删除.

结论:

直接干扰B细胞发育和分化途径有助于B原体ALL.
高分辨率的全基因组方法对于发现癌症中的新型分子病变具有强大作用.

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