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亚洲人和高加索人慢性淋巴细胞白血病的遗传差异。

Genetic differences between Asian and Caucasian chronic lymphocytic leukemia.

机构信息

Hematology/Oncology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

出版信息

Int J Oncol. 2013 Aug;43(2):561-5. doi: 10.3892/ijo.2013.1966. Epub 2013 May 27.

DOI:10.3892/ijo.2013.1966
PMID:23708256
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3775563/
Abstract

Chronic lymphocytic leukemia (CLL) is a common hematological malignancy in Western countries. However, this disease is very rare in Asian countries. It is not clear whether the mechanisms of development of CLL in Caucasians and Asians are the same. We compared genetic abnormalities in Asian and Caucasian CLL using 250k GeneChip arrays. Both Asian and Caucasian CLL had four common genetic abnormalities: deletion of 13q14.3, trisomy 12, abnormalities of ATM (11q) and abnormalities of 17p. Interestingly, trisomy 12 and deletion of 13q14.3 were mutually exclusive in both groups. We also found that deletions of miR 34b/34c (11q), caspase 1/4/5 (11q), Rb1 (13q) and DLC1 (8p) are common in both ethnic groups. Asian CLL more frequently had gain of 3q and 18q. These suggest that classic genomic changes in the Asian and Caucasina CLL are same. Further, we found amplification of IRF4 and deletion of the SP140/SP100 genes; these genes have been reported as CLL-associated genes by previous genome-wide-association study. We have found classic genomic abnormalities in Asian CLL as well as novel genomic alteration in CLL.

摘要

慢性淋巴细胞白血病(CLL)是西方国家常见的血液系统恶性肿瘤。然而,这种疾病在亚洲国家非常罕见。目前尚不清楚白种人和亚洲人 CLL 的发病机制是否相同。我们使用 250k GeneChip 阵列比较了亚洲人和白种人 CLL 的遗传异常。亚洲人和白种人 CLL 均存在四种常见的遗传异常:13q14.3 缺失、12 三体、ATM(11q)异常和 17p 异常。有趣的是,两组中 12 三体和 13q14.3 缺失是互斥的。我们还发现 miR 34b/34c(11q)、caspase 1/4/5(11q)、Rb1(13q)和 DLC1(8p)缺失在两个种族中都很常见。亚洲 CLL 更常出现 3q 和 18q 的增益。这表明亚洲和白种人 CLL 的经典基因组变化是相同的。此外,我们发现了 IRF4 的扩增和 SP140/SP100 基因的缺失;这些基因之前已被全基因组关联研究报道为与 CLL 相关的基因。我们在亚洲 CLL 中发现了经典的基因组异常,以及 CLL 中的新的基因组改变。

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