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学科主题: 口腔医学
题名:
Underestimated PTCH1 mutation rate in sporadic keratocystic odontogenic tumors
作者: 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
发表日期: 2015
DOI: 10.1016/j.oraloncology.2014.09.016
卷: 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
所属项目编号: 81030018 ; 30872900 ; 30901680 ; 20120001110043
项目资助者: National Nature Science Foundation of China ; Doctoral Fund of Ministry of Education of China
WOS记录号: WOS:000346210900009
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/53679
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: 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

Recommended Citation:
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.
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