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.
目的:初步建立腮腺CT影像报告与数据系统(Parotid Imaging Reporting and Data System,PI-RADS),并探讨其临床应用价值。方法:纳入2013年1月至2016年12月间因腮腺肿物就诊于北京大学口腔医院并进行手术治疗的病例,回顾性评估所有病例的影像资料,获取相关影像特征,评估肿瘤恶性风险概率,并分为6个等级(1级,正常腮腺;2级,基本确定为良性病变或肿瘤;3级,无明确恶性病变证据但不能确定为良性病变;4级,怀疑为恶性肿瘤病变但证据不充分;5级,恶性肿瘤影像征象较充分;6级,有恶性肿瘤病理学证据)。结果:共纳入腮腺肿物病例897例次,其中良性病变905例次、恶性肿瘤98例次,影像诊断为2级、3级、4级和5级的病变中,恶性肿瘤的构成比分别为0.4%、5.7%、35.5%和96.7%,随PI-RADS分级呈逐渐增高趋势(Z=-15.579,P<0.001)。相邻等级[2级与3级(χ^2=12.048,P=0.001)、3级与4级(χ^2=75.231,P<0.001)、4级与5级(χ^2=32.266,P<0.001)]之间的恶性构成比差异有统计学意义。Cohen’s Kappa检验表明两位研究者分级诊断具有中度一致性(κ=0.614,P<0.001,95%CI:0.569~0.695)。结论:应用影像诊断分级方法对腮腺肿瘤性疾病的诊断和临床治疗有一定的帮助。
