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学科主题: 口腔医学
题名:
Frequent genetic alterations and reduced expression of the Axin1 gene in oral squamous cell carcinoma: Involvement in tumor progression and metastasis
作者: Zhou, Chuan-Xiang; Gao, Yan
关键词: Axin1 ; mutation ; polymorphism ; denaturing high performance liquid chromatography ; immunohistochemistry ; differentiation ; metastasis ; oral squamous cell carcinoma
刊名: ONCOLOGY REPORTS
发表日期: 2007
卷: 17, 期:1, 页:73-79
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Oncology
研究领域[WOS]: Oncology
关键词[WOS]: WNT SIGNALING PATHWAY ; ACTIVATED PROTEIN-KINASE ; BETA-CATENIN ; HEPATOCELLULAR CARCINOMAS ; NEGATIVE REGULATOR ; COLORECTAL-CANCER ; MUTATIONS ; DOMAINS ; APC ; PHOSPHORYLATION
英文摘要:

The aims of this study were to analyze the genetic alterations and expression levels of the Axin1 gene in oral squamous cell carcinoma (OSCC), to evaluate its clinical importance and to clarify whether the Axin1 gene is involved in the pathogenesis of OSCC. Mutation analysis of the Axinl gene was performed by denaturing high performance liquid chromatography (DHPLC) and DNA sequencing in 44 OSCC samples. Meanwhile, Axinl protein expression was investigated by immunohistochemistry in these samples. Aberrant profiles were detected by DHPLC screening in 26 different OSCC cases. After sequencing analysis, four mutations and five polymorphisms were identified. One case of poorly differentiated OSCC with metastasis contained two mutations: one revealed a T > G substitution at nucleotide 324 in exon 1, resulting in a glycine to stop codon substitution at amino acid residue 108; the other revealed an A > G heterozygous mutation in intron 7, located very near to exon 8. In another two patients with moderately differentiated OSCC and metastasis, a G > T heterozygous mutation at codon 488 in exon 5 and a C > G substitution at the intron 5+26 position was detected, respectively. Five polymorphisms were all frequent and localized at positions of codon 254 (GAT -> GAC), codon 429 (GTC -> ATC), codon 525 (GAC -> GAT), codon 609 (GCT -> GCC), and intron 4+17 (G > A), with a frequency of 39%, 8%, 6%, 13% and 9%, respectively. Immunoreactivity for Axinl was strongly positive in normal stratified squamous epithelium but significantly reduced expression of Axinl was shown in most of the 44 tumor specimens (35/44), especially in poorly differentiated tumors with metastasis. These results suggest that mutational inactivation and reduced expression of the Axinl gene may play a pivotal role in OSCC carcinogenesis and metastasis.

语种: 英语
WOS记录号: WOS:000243114100011
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/66044
Appears in Collections:北京大学口腔医学院_口腔病理科_期刊论文

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作者单位: Peking Univ, Sch & Hosp Stomatol, Dept Oral Pathol, Beijing, Peoples R China

Recommended Citation:
Zhou, Chuan-Xiang,Gao, Yan. Frequent genetic alterations and reduced expression of the Axin1 gene in oral squamous cell carcinoma: Involvement in tumor progression and metastasis[J]. ONCOLOGY REPORTS,2007,17(1):73-79.
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