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Underestimated PTCH1 mutation rate in sporadic keratocystic odontogenic tumors
Qu, Jiafei1; Yu, Feiyan1; Hong, Yingying1; Guo, Yanyan1; Sun, Lisha2; Li, Xuefen2; Zhang, Jianyun1; Zhang, Heyu2; Shi, Ruirui2; Chen, Feng2; Li, Tiejun1
关键词Ptch1 Mutation Keratocystic Odontogenic Tumors
刊名ORAL ONCOLOGY
2015
DOI10.1016/j.oraloncology.2014.09.016
51期:1页:40-45
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Oncology ; Dentistry, Oral Surgery & Medicine
研究领域[WOS]Oncology ; Dentistry, Oral Surgery & Medicine
关键词[WOS]CELL CARCINOMA SYNDROME ; BENIGN CYSTIC NEOPLASM ; GORLIN-SYNDROME ; GERMLINE MUTATIONS ; AGGRESSIVE NATURE ; SONIC HEDGEHOG ; GENE-MUTATIONS ; NEVUS SYNDROME ; HUMAN HOMOLOG ; IDENTIFICATION
英文摘要

Objectives: Keratocystic odontogenic tumors (KCOTs) are benign cystic lesions of the jaws that occur sporadically in isolation or in association with nevoid basal cell carcinoma syndrome (NBCCS). The protein patched homolog 1 gene (PTCH1) is associated with NBCCS development and tumor genesis associated with this syndrome. However, previous studies have revealed that more than 85% of syndromic KCOTs and less than 30% of sporadic KCOTs harbor PTCH1 mutations. The significantly lower PTCH1 mutation rates observed in sporadic KCOTs suggest that they serve a minor role in pathogenesis. We aimed to discern the importance of PTCH1 mutations in sporadic KCOTs.

Materials and methods: PTCH1 mutational analysis was performed with 19 new sporadic KCOT cases by direct sequencing of epithelial lining samples separated from fibrous capsules. Using this approach, we further reexamined 9 sporadic KCOTs that were previously reported to lack PTCH1 mutations by our group.

Results: Nineteen PTCH1 mutations were detected in patient samples from 16/19 new cases (84%) all these mutations were absent in fibrous tissues and peripheral blood specimens from the same patients. We also identified four PTCH1 mutations in 3/9 patients (33%) that were previously undetected.

Discussion: These data indicated that PTCH1 mutations occur in sporadic KCOTs at a higher rate than previously suspected, owing to the masking effects of the attached stromal tissues in the test samples. These results suggest that the PTCH1 gene plays a significant role in the pathogenesis of sporadic KCOTs, which is comparable to that observed in NBCCS patients. (C) 2014 Published by Elsevier Ltd.

语种英语
WOS记录号WOS:000346210900009
项目编号81030018 ; 30872900 ; 30901680 ; 20120001110043
资助机构National Nature Science Foundation of China ; Doctoral Fund of Ministry of Education of China
引用统计
被引频次:16[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/53679
专题北京大学口腔医学院_中心实验室
北京大学口腔医学院_口腔病理科
作者单位1.Peking Univ, Dept Oral Pathol, Sch & Hosp Stomatol, Beijing 100081, Peoples R China
2.Peking Univ, Cent Lab, Sch & Hosp Stomatol, Beijing 100081, Peoples R China
推荐引用方式
GB/T 7714
Qu, Jiafei,Yu, Feiyan,Hong, Yingying,et al. Underestimated PTCH1 mutation rate in sporadic keratocystic odontogenic tumors[J]. ORAL ONCOLOGY,2015,51(1):40-45.
APA Qu, Jiafei.,Yu, Feiyan.,Hong, Yingying.,Guo, Yanyan.,Sun, Lisha.,...&Li, Tiejun.(2015).Underestimated PTCH1 mutation rate in sporadic keratocystic odontogenic tumors.ORAL ONCOLOGY,51(1),40-45.
MLA Qu, Jiafei,et al."Underestimated PTCH1 mutation rate in sporadic keratocystic odontogenic tumors".ORAL ONCOLOGY 51.1(2015):40-45.
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