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通过比较基因组杂交检测肾细胞癌中的染色体增减及增殖活性

Chromosomal gains and losses detected by comparative genomic hybridization and proliferation activity in renal cell carcinoma.

作者信息

Kallio J P, Mahlamäki E H, Helin H, Karhu R, Kellokumpu-Lehtinen P, Tammela T L J

机构信息

Department of Urology, Tampere University Hospital and University of Tampere, Tampere, Finland.

出版信息

Scand J Urol Nephrol. 2004;38(3):225-30. doi: 10.1080/00365590310025399.

Abstract

OBJECTIVE

The number of DNA losses found using comparative genomic hybridization (CGH) and the proliferation index MIB-1 have been shown to be prognostic factors in renal cell carcinoma (RCC). We evaluated the associations of these two factors with each other and with histopathology and clinical outcome.

MATERIAL AND METHODS

In this prospective study, specimens from 20 primary RCCs were investigated using CGH and MIB-1 assay. The associations of the commonest chromosomal aberrations with histopathology, stage and the clinical outcome of the disease were evaluated.

RESULTS

CGH detected genetic aberrations in all tumours. Losses of genetic material (85%) were more common than gains (65%). Most common was loss in the short arm of chromosome 3, which was found in 70% of the tumours. Other frequent changes (20%) were losses of 4q, 13q, 18 and Xp, as well as gains of 5q, 7p, 7q (25%) and chromosome 12. The number of deleted chromosomal areas varied from none to six. The MIB-1 index varied from 0 to 39 (median 4.0). The total number of chromosomal aberrations or deletions showed no association with MIB-1 index or nuclear grade. Most grade 1 and 2 tumours showed a low MIB-1 index. All nuclear grade 4 tumours progressed and were associated with short survival.

CONCLUSION

CGH gives an overview of DNA changes in RCC and helps to locate targets for more precise genetic evaluation. CGH findings are also helpful for classifying tumours. In this study, genetic aberrations in primary RCCs were not associated with histopathology, proliferation or clinical outcome, which suggests that CGH does not necessarily give any additional information on the prognosis of the disease. MIB-1 index and TNM stage were associated with survival.

摘要

目的

使用比较基因组杂交(CGH)检测到的DNA缺失数量以及增殖指数MIB-1已被证明是肾细胞癌(RCC)的预后因素。我们评估了这两个因素之间的关联以及它们与组织病理学和临床结果的关系。

材料与方法

在这项前瞻性研究中,使用CGH和MIB-1检测对20例原发性RCC标本进行了研究。评估了最常见的染色体畸变与组织病理学、分期及疾病临床结果之间的关联。

结果

CGH在所有肿瘤中均检测到基因畸变。遗传物质的缺失(85%)比增加(65%)更为常见。最常见的是3号染色体短臂缺失,在70%的肿瘤中被发现。其他常见变化(20%)包括4q、13q、18和Xp缺失,以及5q、7p、7q增加(25%)和12号染色体增加。缺失的染色体区域数量从无到六个不等。MIB-1指数从0到39不等(中位数为4.0)。染色体畸变或缺失的总数与MIB-1指数或核分级无关。大多数1级和2级肿瘤的MIB-1指数较低。所有4级核分级肿瘤均进展且生存期短。

结论

CGH提供了RCC中DNA变化概述,并有助于定位更精确基因评估的靶点。CGH结果也有助于肿瘤分类。在本研究中,原发性RCC中的基因畸变与组织病理学、增殖或临床结果无关,这表明CGH不一定能提供有关疾病预后的任何额外信息。MIB-1指数和TNM分期与生存期相关。

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