Array comparative genomic hybridization analysis of uterine leiomyosarcoma
Array comparative genomic hybridization analysis of uterine leiomyosarcoma
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DOI：
10.1016/j.ygyno.2005.07.017
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发表时间：
2005-12-01
影响因子：
4.7
通讯作者：
Ahn, WS
中科院分区：
文献类型：
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作者：
Cho, YL;Bae, S;Ahn, WS
目的.采用全基因组芯片比较基因组杂交技术（array-CGH），分析子宫平滑肌肉瘤DNA拷贝数的变化。本文分析了4例子宫平滑肌瘤和7例子宫平滑肌肉瘤。石蜡包埋的组织标本在显微镜下显微解剖，提取DNA。利用基因组数据库（Gene Ontology）进行阵列CGH和荧光原位杂交（FISH）。子宫平滑肌瘤无明显基因改变，而7例子宫平滑肌肉瘤均有特异性基因获得和丢失。平均收益率为4.86%，平均亏损率为15.1%。高水平增益的区域是7q36.3、7 q33-q35、12 q13 - 12 q15和12q23.3。1p21.1、2p22.2、6p11.2、9p21.1、9p21.3、9p22.1、14q32.33和14q32.33 qter为缺失区。无复发性增加区域，但复发性丢失区域为1p21.1-p21.2，1p22.3-p31.1，9p21.2-p22.2，10 q25-q25.2，11q24.2-q25，13 q12-q12.13，14q31.1-q31.3，14q32.32-q32.33，15 q11-q11，15 q13-q14，18q12.1-q12.2、18q22.1-q22.3、20p12.1和21q22.12-q22.13。在高增益区，BAC克隆编码HMGIC、SAS、MDM 2、TIM 1基因。经常获得的BAC克隆编码的基因是TIM 1、PDGFR-β、REC Q4、VAV 2、FGF 4、KLK 2、PNUTL 1 I、GDNF、FLG、EXT 1、WISP 1、HER-2和SOX 18。由频繁丢失的BAC克隆编码的基因是LEU 1、ERCC 5、THBS 1、DCC、MBD 2、SCCA 1、FVT 1、CYB 5和ETS 2/E2。通过基因本体数据库对每个基因的细胞过程子集进行聚类。应用微阵列CGH技术检测子宫平滑肌肉瘤相关染色体畸变。阵列CGH的高分辨率与人类基因组数据库相结合，将为寻找获得或丢失克隆中可能存在的靶基因提供机会。(c)2005年爱思唯尔公司All rights reserved.
Purpose. Using a genome-wide array-based comparative genomic hybridization (array-CGH), DNA copy number changes in uterine leiomyosarcoma were analyzed.Materials and methods. We analyzed 4 cases of uterine leiomyoma and 7 cases of uterine leiomyosarcoma. The paraffin-fixed tissue samples were microdissected under microscope and DNA was extracted. Array-based CGH and fluorescence in situ hybridization (FISH) were carried out with Genome database (Gene Ontology).Results. Uterine leiomyoma showed no genetic alterations, while all of 7 cases of uterine leiomyosarcoma showed specific gains and losses. The percentage of average gains and losses were 4.86% and 15.1%, respectively. The regions of high level of gain were 7q36.3, 7q33-q35 12q13-12q15, and 12q23.3. And the regions of homozygous loss were 1p21.1, 2p22.2, 6p11.2, 9p21.1, 9p21.3, 9p22.1, 14q32.33, and 14q32.33 qter. There were no recurrent regions of gain, but recurrent regions of loss were 1p21.1-p21.2, 1p22.3-p31.1, 9p21.2-p22.2, 10q25-q25.2, 11q24.2-q25, 13q12-q12.13, 14q31.1-q31.3, 14q32.32-q32.33, 15q11-q11, 15q13-q14, 18q12.1-q12.2, 18q22.1-q22.3, 20p12.1, and 21q22.12-q22.13. In the high level of gain regions, BAC clones encoded HMGIC, SAS, MDM2, TIM1 genes. Frequently gained BAC clone-encoded genes were TIM1, PDGFR-beta, REC Q4, VAV2, FGF4, KLK2, PNUTL1I, GDNF, FLG, EXT1, WISP1, HER-2, and SOX18. The genes encoded by frequently lost BAC clones were LEU1, ERCC5, THBS1, DCC, MBD2, SCCA1, FVT1, CYB5, and ETS2/E2. A subset of cellular processes from each gene was clustered by Gene Ontology database.Conclusion. Using array-CGH, chromosomal aberrations related to uterine leiomyosarcoma were identified. The high resolution of array-CGH combined with human genome database would give a chance to find out possible target genes present in the gained or lost clones. (c) 2005 Elsevier Inc. All rights reserved.