Genomic alterations in sporadic synchronous primary breast cancer using array and metaphase comparative genomic hybridization
Genomic alterations in sporadic synchronous primary breast cancer using array and metaphase comparative genomic hybridization
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DOI：
10.1593/neo.07301
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发表时间：
2007-06-01
期刊：
影响因子：
4.8
通讯作者：
Done, Susan J.
中科院分区：
文献类型：
--
作者：
Ghazani, Arezou A.;Arneson, Nona;Done, Susan J.
同时原发性乳腺癌描述了在最初诊断时发生多个肿瘤，影响一个或两个乳房。这提供了一个独特的机会，以确定组织特异性的基因组标记，表征每个肿瘤，同时控制患者的个体遗传背景。本研究的目的是检查同步癌症之间的基因组改变和相似程度。采用中期比较基因组杂交和阵列比较基因组杂交（aCGH）技术，从染色体和基因水平对10例23例同步性乳腺癌的基因组变异进行了检测。同步乳腺癌与其匹配的对应物相比，发现具有一组共同的核心遗传改变，每个都存在额外的独特变化。它们也经常表现出与更常见的孤立性原发性乳腺癌不同的特征。最常见的基因组改变包括染色体1 q、3 p、4 q和8 q的增加以及11 q、12 q、16 q和17 p的丢失。aCGH鉴定了所有23个肿瘤样本中存在的区域中的拷贝数扩增，包括携带JAK 1的1p31.3-1p32.3。我们的研究结果表明，同步原发性乳腺癌是一种独特的乳腺癌，至少在某些情况下，一种肿瘤可能会引起另一种肿瘤。
Synchronous primary breast cancer describes the occurrence of multiple tumors affecting one or both breasts at initial diagnosis. This provides a unique opportunity to identify tissue-specific genomic markers that characterize each tumor while controlling for the individual genetic background of a patient. The aim of this study was to examine the genomic alterations and degree of similarity between synchronous cancers. Using metaphase comparative genomic hybridization and array comparative genomic hybridization ( aCGH), the genomic alterations of 23 synchronous breast cancers from 10 patients were examined at both chromosomal and gene levels. Synchronous breast cancers, when compared to their matched counterparts, were found to have a common core set of genetic alterations, with additional unique changes present in each. They also frequently exhibited features distinct from the more usual solitary primary breast cancers. The most frequent genomic alterations included chromosomal gains of 1q, 3p, 4q, and 8q, and losses of 11q, 12q, 16q, and 17p. aCGH identified copy number amplification in regions that are present in all 23 tumor samples, including 1p31.3-1p32.3 harboring JAK1. Our findings suggest that synchronous primary breast cancers represent a unique type of breast cancer and, at least in some instances, one tumor may give rise to the other.