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首页> 外文期刊>BMC Medical Genomics >MLL rearrangements in pediatric acute lymphoblastic and myeloblastic leukemias: MLL specific and lineage specific signatures
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MLL rearrangements in pediatric acute lymphoblastic and myeloblastic leukemias: MLL specific and lineage specific signatures

机译：小儿急性淋巴细胞白血病和粒细胞白血病的MLL重排：MLL特异性和谱系特异性特征

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Background The presence of MLL rearrangements in acute leukemia results in a complex number of biological modifications that still remain largely unexplained. Armstrong et al. proposed MLL rearrangement positive ALL as a distinct subgroup, separated from acute lymphoblastic (ALL) and myeloblastic leukemia (AML), with a specific gene expression profile. Here we show that MLL, from both ALL and AML origin, share a signature identified by a small set of genes suggesting a common genetic disregulation that could be at the basis of mixed lineage leukemia in both phenotypes. Methods Using Affymetrix? HG-U133 Plus 2.0 platform, gene expression data from 140 (training set) + 78 (test set) ALL and AML patients with (24+13) and without (116+65) MLL rearrangements have been investigated performing class comparison (SAM) and class prediction (PAM) analyses. Results We identified a MLL translocation-specific (379 probes) signature and a phenotype-specific (622 probes) signature which have been tested using unsupervised methods. A final subset of 14 genes grants the characterization of acute leukemia patients with and without MLL rearrangements. Conclusion Our study demonstrated that a small subset of genes identifies MLL -specific rearrangements and clearly separates acute leukemia samples according to lineage origin. The subset included well-known genes and newly discovered markers that identified ALL and AML subgroups, with and without MLL rearrangements.
机译：背景急性白血病中MLL重排的存在会导致大量生物学修饰，而这些修饰在很大程度上仍无法解释。阿姆斯特朗等。提出MLL重排阳性ALL是一个独特的亚组，与急性淋巴细胞性白血病（ALL）和粒细胞性白血病（AML）分开，具有特定的基因表达谱。在这里，我们显示来自ALL和AML的MLL共享一个由少数基因鉴定的特征，这表明常见的遗传失调可能是两种表型的混合谱系白血病的基础。方法使用Affymetrix ？ HG-U133 Plus 2.0平台，从140名（训练组）+ 78名（测试组）患有和患有（24 + 13）和不患有（116 + 65）的ALL和AML患者的基因表达数据已经对MLL重排进行了研究，以进行类别比较（SAM）和类别预测（PAM）分析。结果我们确定了使用无监督方法测试的MLL易位特异性（379个探针）签名和一个表型特异性（622个探针）签名。 14个基因的最后一个子集可表征具有和不具有MLL重排的急性白血病患者。结论我们的研究表明，一小部分基因可识别MLL特异性重排，并根据血统起源清楚地分离出急性白血病样本。该子集包括众所周知的基因和新发现的标志物，这些标志物可识别具有和不具有MLL重排的ALL和AML亚组。

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