Genetic alterations in oral squamous cell carcinoma progression detected by combining array-based comparative genomic hybridization and multiplex ligation-dependent probe amplification
Genetic alterations in oral squamous cell carcinoma progression detected by combining array-based comparative genomic hybridization and multiplex ligation-dependent probe amplification
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DOI：
10.1016/j.tripleo.2010.11.020
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发表时间：
2011-05-01
期刊：
影响因子：
--
通讯作者：
Cha, In-Ho
中科院分区：
文献类型：
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作者：
Cha, Jeong-Dan;Kim, Hyung Jun;Cha, In-Ho
背景口腔鳞状细胞癌（OSCC）是口腔中最常见的恶性肿瘤，它是由致癌物诱导的遗传变化积累驱动的多步骤过程。采用基于阵列的比较基因组杂交（aCGH）和多重连接依赖探针扩增（MLPA）技术，对7例口腔鳞癌患者的癌区、异型增生移行区和无瘤切缘（正常）新鲜组织进行全基因组检测。扩增频率最高的基因为FAM 5 B、TIPARP、PIK 3CA、NLGN 1、FGF 10、HDAC 9、GRM 3、DDEF 1、EDNRB、CHRDL 1和HTR 2C，缺失频率最高的基因为THRAP 3、CTTNBP 2NL、GATAD 2B、REL、CKAP 2L、RHOA、EIF 4 E3、PDLIM 5、FBXO 3、NEUROD 4和ABCA 5。在异型增生中，RNF 36扩增（100%，7/7），CKAP 2L和TCF 8缺失。我们可以用MLPA检测到癌症或异型增生与正常区域之间的改变数量的巨大差异，P值为
Background. Oral squamous cell carcinoma (OSCC), the most common malignancy of the oral cavity, has been shown to occur via a multistep process driven by the accumulation of carcinogen-induced genetic changes.Study design. Array-based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) were conducted to screen human genomewide alterations on fresh tissues of the cancer area, the dysplastic transitional area, and the resection margin (normal) free of tumor; these samples were obtained from 7 OSCC patients.Results. The highest amplification frequencies (100%, 7/7) were detected in FAM5B, TIPARP, PIK3CA, NLGN1, FGF10, HDAC9, GRM3, DDEF1, EDNRB, CHRDL1, and HTR2C, and the highest deletion frequencies in THRAP3, CTTNBP2NL, GATAD2B, REL, CKAP2L, RHOA, EIF4E3, PDLIM5, FBXO3, NEUROD4, and ABCA5 in the OSCC. In the dysplasia, amplification (100%, 7/7) was detected in RNF36 and deletion in CKAP2L and TCF8. We could detect large differences with MLPA in the number of alterations between the cancer or dysplasia versus the normal area with P values of