Uchida Kenichiro, Oga Atsunori, Okafuji Masaki, Mihara Mariko, Kawauchi Shigeto, Furuya Tomoko, Chochi Yasuyo, Ueyama Yoshiya, Sasaki Kohsuke
Department of Oral and Maxillofacial Surgery, 1-1-1 Minami-Kogushi, Ube, Yamaguchi 755-8505, Japan.
Cancer Genet Cytogenet. 2006 Jun;167(2):109-16. doi: 10.1016/j.cancergencyto.2006.01.007.
We investigated relationships between DNA copy number aberrations and chromosomal structural rearrangements in 11 different cell lines derived from oral squamous cell carcinoma (OSCC) by comparative genomic hybridization (CGH), spectral karyotyping (SKY), and fluorescence in situ hybridization (FISH). CGH frequently showed recurrent chromosomal gains of 5p, 20q12, 8q23 approximately qter, 20p11 approximately p12, 7p15, 11p13 approximately p14, and 14q21, as well as losses of 4q, 18q, 4p11 approximately p15, 19p13, 8p21 approximately pter, and 16p11 approximately p12. SKY identified the following recurrent chromosomal abnormalities: i(5)(p10), i(5)(q10), i(8)(q10), der(X;1)(q10;p10), der(3;5)(p10;p10), and der(3;18)(q10;p10). In addition, breakpoints detected by SKY were clustered in 11q13 and around centromeric regions, including 5p10/q10, 3p10/q10, 8p10/q10 14q10, 1p10/1q10, and 16p10/16q10. Cell lines with i(5)(p10) and i(8)(q10) showed gains of the entire chromosome arms of 5p and 8q by CGH. Moreover, breakages near the centromeres of chromosomes 5 and 8 may be associated with 5p gain, 8q gain, and 8p loss in OSCC. FISH with a DNA probe from a BAC clone mapping to 5p15 showed a significant correlation between the average numbers of i(5)(p10) and 5p15 (R(2) = 0.8693, P< 0.01) in these cell lines, indicating that DNA copy number of 5p depends upon isochromosome formation in OSCC.
我们通过比较基因组杂交（CGH）、光谱核型分析（SKY）和荧光原位杂交（FISH），研究了源自口腔鳞状细胞癌（OSCC）的11种不同细胞系中DNA拷贝数畸变与染色体结构重排之间的关系。CGH经常显示出5p、20q12、8q23至qter、20p11至p12、7p15、11p13至p14和14q21的反复染色体增加，以及4q、18q、4p11至p15、19p13、8p21至pter和16p11至p12的缺失。SKY鉴定出以下反复出现的染色体异常：i(5)(p10)、i(5)(q10)、i(8)(q10)、der(X;1)(q10;p10)、der(3;5)(p10;p10)和der(3;18)(q10;p10)。此外，SKY检测到的断点聚集在11q13和着丝粒区域周围，包括5p10/q10、3p10/q10、8p10/q10、14q10、1p10/1q10和16p10/16q10。具有i(5)(p10)和i(8)(q10)的细胞系通过CGH显示出5p和8q整个染色体臂的增加。此外，5号和8号染色体着丝粒附近的断裂可能与OSCC中的5p增加、8q增加和8p缺失有关。用定位到5p15的BAC克隆的DNA探针进行FISH显示，这些细胞系中i(5)(p10)的平均数与5p15之间存在显著相关性（R(2)=0.8693，P<0.01），表明5p的DNA拷贝数取决于OSCC中的等臂染色体形成。
