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2 号染色体短臂获得(Gain of the short arm of chromosome 2)是未经治疗的晚期慢性淋巴细胞白血病(chronic lymphocytic leukemia,CLL)中常见的染色体异常。

Gain of the short arm of chromosome 2 (2p) is a frequent recurring chromosome aberration in untreated chronic lymphocytic leukemia (CLL) at advanced stages.

机构信息

Service d'hématologie biologique, CHU Pitié-Salpêtrière, Université Paris 6, France.

出版信息

Leuk Res. 2010 Jan;34(1):63-8. doi: 10.1016/j.leukres.2009.03.042. Epub 2009 Apr 29.

DOI:10.1016/j.leukres.2009.03.042
PMID:19406473
Abstract

Using array-based CGH, we identified 2p gain in 22/78 (28%) untreated Binet stages B/C CLL, which was the second most frequent copy number change after 13q deletion. It never occurred as a sole abnormality and was associated with other changes (6q deletion; 1p gain). The region of 2p gain frequently included two oncogenes, REL and MYCN. All patients with gain of REL were unmutated for IGHV (p=0.03). Gain of MYCN was associated with increased mRNA expression (p=0.005), suggesting a pathogenic role for MYCN. Gain of 2p appears to be a marker of progression and may contribute to the poor prognosis.

摘要

使用基于阵列的 CGH,我们鉴定出 78 例未经治疗的 Binet 分期 B/C CLL 中有 22 例(28%)存在 2p 增益,这是继 13q 缺失后第二常见的拷贝数改变。它从不单独发生,而是与其他改变相关(6q 缺失;1p 增益)。2p 增益区域经常包括两个癌基因,REL 和 MYCN。所有 REL 增益的患者 IGHV 均未突变(p=0.03)。MYCN 增益与 mRNA 表达增加相关(p=0.005),提示 MYCN 具有致病性作用。2p 增益似乎是进展的标志物,并可能导致不良预后。

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