Lese C M, Rossie K M, Appel B N, Reddy J K, Johnson J T, Myers E N, Gollin S M
Department of Human Genetics, University of Pittsburgh, Pennsylvania, USA.
Genes Chromosomes Cancer. 1995 Apr;12(4):288-95. doi: 10.1002/gcc.2870120409.
Oral squamous cell carcinoma (OSCC) develops along a multistep genetic pathway including loss of tumor suppressor genes and alteration of oncogenes. We characterized seven OSCC cell lines by classical and molecular cytogenetic analysis and fresh tumor and adjacent oral mucosa corresponding to three of the cell lines by molecular cytogenetics. We observed homogeneously staining regions (hsrs) in four of the seven cell lines, at 11q13 in three and at 11q23 and in an unidentified marker chromosome in the fourth. Amplification of band 11q13 occurs in 30-60% of head and neck squamous cell carcinomas. To determine whether INT2 and HST1, both located in band 11q13, are amplified in the tissues and cell lines and to confirm the chromosomal location(s) of the amplification, we used dual-color fluorescence in situ hybridization (FISH) with DNA probes for these genes and the chromosome 11 centromere. We report chromosomal localization of INT2/HST1 amplification in OSCC. Coamplification of INT2 and HST1 was detected in the hsrs in cultured tumor cells from the four hsr-containing tumors and in directly harvested tumor cells, which were available from only two of these tumors. Amplification was not present in tumors lacking hsrs or adjacent oral mucosa corresponding to any of the seven tumors. The observation of amplification in fresh tumor cells suggests that the amplification was present in the patients, may play a key role in the development and/or progression of OSCC, and is not due to karyotypic evolution in vitro. The absence of amplification in the adjacent mucosa suggests that 11q13 amplification is a relatively late event in OSCC tumorigenesis.
口腔鳞状细胞癌(OSCC)沿着多步骤遗传途径发展,包括肿瘤抑制基因的缺失和癌基因的改变。我们通过经典和分子细胞遗传学分析对七种OSCC细胞系进行了特征描述,并通过分子细胞遗传学对与其中三种细胞系相对应的新鲜肿瘤及相邻口腔黏膜进行了分析。我们在七种细胞系中的四种中观察到了均匀染色区(hsrs),其中三种在11q13,第四种在11q23以及一条未识别的标记染色体上。11q13带的扩增发生在30%-60%的头颈部鳞状细胞癌中。为了确定位于11q13带的INT2和HST1在组织和细胞系中是否被扩增,并确认扩增的染色体定位,我们使用了针对这些基因和11号染色体着丝粒的DNA探针进行双色荧光原位杂交(FISH)。我们报告了INT2/HST1在OSCC中的染色体定位。在来自四个含有hsr的肿瘤的培养肿瘤细胞以及直接收获的肿瘤细胞(仅其中两个肿瘤可获得)的hsrs中检测到INT2和HST1的共扩增。在缺乏hsrs的肿瘤或与这七个肿瘤中任何一个相对应的相邻口腔黏膜中未检测到扩增。在新鲜肿瘤细胞中观察到扩增表明该扩增存在于患者体内,可能在OSCC的发生发展中起关键作用,并且不是由于体外核型进化所致。相邻黏膜中无扩增表明11q13扩增是OSCC肿瘤发生中相对较晚的事件。