Genomewide array-based comparative genomic hybridization analysis of acute promyelocytic leukemia
Genomewide array-based comparative genomic hybridization analysis of acute promyelocytic leukemia
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DOI：
10.1002/gcc.20309
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发表时间：
2006-04-01
影响因子：
3.7
通讯作者：
Naoe, T
中科院分区：
文献类型：
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作者：
Karnan, S;Tsuzuki, S;Naoe, T
急性早幼粒细胞白血病（APL）通常与产生PML-RARA融合蛋白的t（15; 17）相关。动物模型已经表明，尽管融合蛋白是必需的，但它不足以发展APL，这意味着其他机制是导致全面发展的白血病的原因。特定基因的突变与白血病的发生有关，然而，基因拷贝数的改变还没有得到很好的研究。本文应用全基因组阵列比较基因组杂交技术对30例急性早幼粒细胞白血病临床标本和2株急性早幼粒细胞白血病细胞系进行了检测。结果发现：（1）大约一半的临床样本（30例APIL病例中的14例）没有可检测到的染色体不平衡;（2）其余16例病例，包括细胞系，表现出复发性染色体不平衡，如1 p36、2 p11、16 p和17 p丢失，8 p、8 q和13 q增加。这些结果表明，染色体不平衡在APL中基本上是不存在的，虽然一些非随机的染色体不平衡可能与APL的发展在有限的情况下。(c)2006 Wiley-Liss，Inc.
Acute promyelocytic leukemia (APL) is typically associated with the t(15; 17) that generates the PML-RARA fusion protein. Animal models have shown that although the fusion protein is necessary, it is insufficient for the development of APL, implying that additional mechanisms are responsible for full-blown leukemia. The mutation of specific genes has been implicated in leukemogenesis; however, alterations in gene copy number have not been well investigated. Here, we applied the genomewide arraycomparative genomic hybridization technique to 30 APIL clinical samples and 2 APL cell lines. It was found that (1) approximately half the clinical samples (14 of 30 APIL cases) had no detectable chromosomal imbalances; and (2) the remaining 16 cases, including the cell lines, exhibited recurrent chromosomal imbalances, such as loss of 1p36, 2p 11, 16p, and 17p, and gain of 8p, 8q, and 13q. These results suggest that chromosomal imbalances are largely absent in APL, although some nonrandom chromosomal imbalances could be linked to the development of APL in a limited number of cases. (c) 2006 Wiley-Liss, Inc.