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基于阵列的比较基因组杂交技术对黏液样脂肪肉瘤和黏液纤维肉瘤的细胞遗传学分析

Cytogenetic analysis of myxoid liposarcoma and myxofibrosarcoma by array-based comparative genomic hybridisation.

作者信息

Ohguri T, Hisaoka M, Kawauchi S, Sasaki K, Aoki T, Kanemitsu S, Matsuyama A, Korogi Y, Hashimoto H

机构信息

Department of Pathology and Oncology, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.

出版信息

J Clin Pathol. 2006 Sep;59(9):978-83. doi: 10.1136/jcp.2005.034942. Epub 2006 Jun 2.

Abstract

AIM

To investigate overall chromosomal alterations using array-based comparative genomic hybridisation (CGH) of myxoid liposarcomas (MLSs) and myxofibrosarcomas (MFSs).

MATERIALS AND METHODS

Genomic DNA extracted from fresh-frozen tumour tissues was labelled with fluorochromes and then hybridised on to an array consisting of 1440 bacterial artificial chromosome clones representing regions throughout the entire human genome important in cytogenetics and oncology.

RESULTS

DNA copy number aberrations (CNAs) were found in all the 8 MFSs, but no alterations were found in 7 (70%) of 10 MLSs. In MFSs, the most frequent CNAs were gains at 7p21.1-p22.1 and 12q15-q21.1 and a loss at 13q14.3-q34. The second most frequent CNAs were gains at 7q33-q35, 9q22.31-q22.33, 12p13.32-pter, 17q22-q23, Xp11.2 and Xq12 and losses at 10p13-p14, 10q25, 11p11-p14, 11q23.3-q25, 20p11-p12 and 21q22.13-q22.2, which were detected in 38% of the MFSs examined. In MLSs, only a few CNAs were found in two sarcomas with gains at 8p21.2-p23.3, 8q11.22-q12.2 and 8q23.1-q24.3, and in one with gains at 5p13.2-p14.3 and 5q11.2-5q35.2 and a loss at 21q22.2-qter.

CONCLUSIONS

MFS has more frequent and diverse CNAs than MLS, which reinforces the hypothesis that MFS is genetically different from MLS. Out-array CGH analysis may also provide several entry points for the identification of candidate genes associated with oncogenesis and progression in MFS.

摘要

目的

利用基于芯片的比较基因组杂交技术(array-based comparative genomic hybridisation,aCGH)研究黏液样脂肪肉瘤(myxoid liposarcomas,MLSs)和黏液纤维肉瘤(myxofibrosarcomas,MFSs)的整体染色体改变情况。

材料与方法

从新鲜冷冻的肿瘤组织中提取基因组DNA,用荧光染料进行标记,然后与一个由1440个细菌人工染色体克隆组成的芯片进行杂交,这些克隆代表了整个人类基因组中在细胞遗传学和肿瘤学方面重要的区域。

结果

在所有8例黏液纤维肉瘤中均发现了DNA拷贝数异常(copy number aberrations,CNAs),但在10例黏液样脂肪肉瘤中的7例(70%)未发现改变。在黏液纤维肉瘤中,最常见的CNAs是7p21.1-p22.1和12q15-q21.1区域的增益以及13q14.3-q34区域的缺失。第二常见的CNAs是7q33-q35、9q22.31-q22.33、12p13.32-pter、17q22-q23、Xp11.2和Xq12区域的增益以及10p13-p14、10q25、11p11-p14、11q23.3-q25、20p11-p12和21q22.13-q22.2区域的缺失,在所检测的38%的黏液纤维肉瘤中可检测到这些改变。在黏液样脂肪肉瘤中,仅在2例肉瘤中发现了少数CNAs,分别为8p21.2-p23.3、8q11.22-q12.2和8q23.1-q24.3区域的增益,以及在1例中发现了5p13.2-p14.3和5q11.2-5q35.2区域的增益以及21q22.2-qter区域的缺失。

结论

黏液纤维肉瘤比黏液样脂肪肉瘤具有更频繁和多样的CNAs,这强化了黏液纤维肉瘤在基因上与黏液样脂肪肉瘤不同的假说。芯片外aCGH分析也可能为鉴定与黏液纤维肉瘤的肿瘤发生和进展相关的候选基因提供多个切入点。

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