颌骨牙源性角化囊性瘤的研究  

Studies on keratocystic odontogenic tumors

作　　者：李铁军[1] 孙丽莎[1] 罗海燕[1] 袁峻伟[1] 高丽[1] 谷小美[1] 李雪芬[1] 徐丽莉[1] 

机构地区：[1]北京大学口腔医学院.口腔医院病理科,北京100081

出　　处：《北京大学学报（医学版）》2009年第1期16-20,共5页Journal of Peking University:Health Sciences

基　　金：国家自然科学基金(30625044;30572048和30872900);高等学校博士学科点专项科研基金(20050001110)资助~~

摘　　要：Keratocystic odontogenic tumors(KCOTs,previously known as odontogenic keratocysts) are aggressive,noninflammatory jaw lesions with a putative high growth potential and a propensity for recurrence.This article puts together a summary of the serial studies related to KCOTs undertaken by the author’s research group in recent years.Intraosseous jaw cysts with a solely orthokeratinized lining epithe-lium have been suggested to differ from the typical KCOTs.We report 20 cases of such cyst type under the term of ’orthokeratinized odontogenic cyst(OOC)’.Apart from the presence of a keratinizing epithelial lining,the OOC lacks the other histological features of KCOT,exhibits little if any tendency to recur,has no apparent association with NBCCS,may be cured by simple enucleation,and may thus constitute its own clinical entity.Mutations in PTCH1 gene are responsible for NBCCS and are related in tumors associated with this syndrome.We have so far detected 26 PTCH1 mutations(2 mutations occurred twice) in 10 out of 34(29.4%) sporadic and 14 out of 16(87.5%) NBCCS-associated KCOTs.The 26 mutations consisted of 10 frameshift,2 nonsense,3 aberrant splicing,4 in-frame insertion/deletion/ duplication and 7 missense mutations.Two missense mutations in PTCH2 were also detected in 2 out of 15 NBCCS related KCOT patients.By contrast,no pathogenic mutation was detected in SMO.Thus,our data,together with reports from ther groups,indicate that defects of PTCH1 are involved in the pathogenesis of syndromic as well as sporadic KCOTs.The pathogenic role of PTCH2 requires further investigation.A series of in vitro studies on bone resorption of KCOTs and ameloblastomas were undertaken by this group.The results indicate that odontogenic lesions could promote bone resorption in vitro and it is likely to be related to some of the cytokines secreted by the lesions.Keratocystic odontogenic tumors （KCOTs, previously known as odontogenic keratocysts） are aggressive, noninflammatory jaw lesions with a putative high growth potential and a propensity for recurrence. This article puts together a summary of the serial studies related to KCOTs undertaken by the author＇ s research group in recent years. Intraosseous jaw cysts with a solely orthokeratinized lining epithelium have been suggested to differ from the typical KCOTs. We report 20 cases of such cyst type under the term of ‘orthokeratinized odontogenic cyst （OOC）’. Apart from the presence of a keratinizing epithelial lining, the OOC lacks the other histological features of KCOT, exhibits little if any tendency to recur, has no apparent association with NBCCS, may be cured by simple enucleation, and may thus constitute its own clinical entity. Mutations in PTCH1 gene are responsible for NBCCS and are related in tumors associated with this syndrome. We have so far detected 26 PTCH1 mutations （2 mutations occurred twice） in 10 out of 34 （29. 4% ） sporadic and 14 out of 16 （87.5%） NBCCS-associated KCOTs. The 26 mutations consisted of 10 frameshift, 2 nonsense, 3 aberrant splicing, 4 in-frame insertion/deletion/duplication and 7 missense mutations. Two missense mutations in PTCH2 were also detected in 2 out of 15 NB- CCS related KCOT patients. By contrast, no pathogenic mutation was detected in SMO. Thus, our data, together with reports from ther groups, indicate that defects of PTCH1 are involved in the pathogenesis of syndromic as well as sporadic KCOTs. The pathogenic role of PTCH2 requires further investigation. A series of in vitro studies on bone resorption of KCOTs and ameloblastomas were undertaken by this group. The results indicate that odontogenic lesions could promote bone resorption in vitro and it is likely to be related to some of the cytokines secreted by the lesions.

关 键 词：牙源性囊肿 基底细胞痣综合征 牙槽骨质丢失 基因 

分 类 号：R782[医药卫生—口腔医学]