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乳腺良性、交界性和恶性叶状肿瘤的染色体畸变与遗传关系:一项比较基因组杂交研究

Chromosomal aberrations and genetic relations in benign, borderline and malignant phyllodes tumors of the breast: a comparative genomic hybridization study.

作者信息

Lv Shuhua, Niu Yun, Wei Li, Liu Qingjie, Wang Xiaowei, Chen Yan

机构信息

Breast Cancer Research Key Laboratory of National (Education Ministry), Cancer Institute and Hospital, Tianjin Medical University, Ti Yuan Bei, He Xi District, Tianjin, China.

出版信息

Breast Cancer Res Treat. 2008 Dec;112(3):411-8. doi: 10.1007/s10549-007-9876-1. Epub 2008 Jan 13.

DOI:10.1007/s10549-007-9876-1
PMID:18189161
Abstract

Phyllodes tumors are not quite rare fibroepithelial neoplasms of the breast that show a broad spectrum of clinical behaviour. The molecular genetic features of the heterogenous groups of neoplasms have not been studied in detail yet. We have used comparative genomic hybridization to analyze chromosomal copy number changes in 36 cases of phyllodes tumors (including benign, borderline and malignant phyllodes tumors, 12 cases each). The average number of chromosome copy changes (range) in benign, borderline and malignant phyllodes tumors were 5.58 (0-20), 14.08 (3-23), and 12.42 (0-29) respectively. In benign phyllodes tumors the number of gains and losses was in balance (2.50 vs 3.08), while in borderline and malignant phyllodes tumors gains occurred more often than losses (9.25 vs 4.83, 9.5 vs 2.92). The result suggests the molecular cytogenetics of borderline and malignant phyllodes tumors is similar, and the most striking difference with benign phyllodes tumors is an increased number of chromosomal gains in a nonrandom distribution. Gains of 4q12 seem especially to be involved in the progression of benign to borderline and malignant phyllodes tumors, possibly because of overexpression of oncogenes at these loci.

摘要

叶状肿瘤是一种并不罕见的乳腺纤维上皮性肿瘤,其临床行为具有广泛的多样性。目前尚未对这类异质性肿瘤群体的分子遗传学特征进行详细研究。我们采用比较基因组杂交技术分析了36例叶状肿瘤(包括良性、交界性和恶性叶状肿瘤,各12例)的染色体拷贝数变化。良性、交界性和恶性叶状肿瘤的平均染色体拷贝数变化数量(范围)分别为5.58(0 - 20)、14.08(3 - 23)和12.42(0 - 29)。在良性叶状肿瘤中,获得和缺失的数量处于平衡状态(2.50对3.08),而在交界性和恶性叶状肿瘤中,获得比缺失更常见(9.25对4.83,9.5对2.92)。结果表明,交界性和恶性叶状肿瘤的分子细胞遗传学相似,与良性叶状肿瘤最显著的差异在于非随机分布的染色体获得数量增加。4q12的获得似乎尤其与良性叶状肿瘤向交界性和恶性叶状肿瘤的进展有关,可能是由于这些位点的癌基因过度表达。

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