Genomic analysis in lymphoid leukemias.

Sabina Chiaretti, Jerome Ritz, Robin Foa
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Abstract

The introduction of microarray analysis represents a revolution in the scientific field, allowing to investigate thousand of genes in a single experiment. Important biological insights have been revealed by this technique in several tumors: in acute lymphoblastic leukemia (ALL), these studies have allowed to identify specific patterns associated with known molecular abnormalities, as well as with phenotypic characteristics and with different prognostic features. In chronic lymphocytic leukemia (CLL), this approach has helped to dissect that this disease is a single entity with distinct variants that are characterized by a diverse IgVH mutational status, that can be discriminated by a small set of genes, has allowed to define a similarity between this disease and memory B cells and has also led to hypothesize that CLL cells from IgVH unmutated patients may be continuously stimulated in vivo, thus showing a gene profile that is reminiscent of the B cell receptor. In multiple myeloma (MM), gene expression profiles has provided insights into the disease and has offered the opportunity of stratifying patients according to the degree of aggressiveness of the disease. Current efforts are directed to the identification of patterns that may distinguish patients with a different outcome, thus providing useful prognostic information and to design experiments that may allow the identification of new therapeutic targets.

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淋巴性白血病的基因组分析。
微阵列分析的引入代表了科学领域的一次革命,可以在一次实验中研究数千个基因。这项技术已经在几种肿瘤中揭示了重要的生物学见解:在急性淋巴细胞白血病(ALL)中,这些研究已经允许识别与已知分子异常相关的特定模式,以及与表型特征和不同预后特征相关的模式。在慢性淋巴细胞白血病(CLL)中,这种方法有助于剖析这种疾病是具有不同变体的单一实体,其特征是不同的IgVH突变状态,可以通过一小组基因进行区分,允许定义这种疾病与记忆B细胞之间的相似性,并且还导致假设来自IgVH未突变患者的CLL细胞可能在体内持续受到刺激。从而显示出与B细胞受体相似的基因图谱。在多发性骨髓瘤(MM)中,基因表达谱提供了对疾病的深入了解,并提供了根据疾病侵袭程度对患者进行分层的机会。目前的努力是为了识别可能区分不同结果的患者的模式,从而提供有用的预后信息,并设计可能允许识别新的治疗靶点的实验。
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