Detection of SMO gene mutations in odontogenic keratocyst / 中华口腔医学杂志

Objective: To detect the SMO mutations in odontogenic keratocyst (OKC) and to explore the mechanism behind. Methods: Patients with OKC who received treatment in the Department of Oral and Maxillofacial Surgery, School and Hospital of Stomatology,Peking University, from September 2012 to June 2017 were enrolled. OKC samples from 10 patients diagnosed as naevoid basal cell carcinoma syndrome (NBCCS)-related OKC (4 females and 6 males) and 20 patients diagnosed as sporadic OKC (7 females and 13 males) were collected. Genomic DNAs were extracted from fibrous capsules and epithelial lining respectively. SMO mutations were detected and analyzed by Sanger sequencing. Results: Three SMO mutations were found in one NBCCS-associated OKC who carrying c.2081C>G (p.P694R) mutation) and two sporadic OKC who carrying c.907C>T (p.L303F) mutation and c.1247_1248delinsAA (p.G416E), respectively), among which the first two mutations were novel mutations that had not been reported before. Besides, two mutations in sporadic OKC were not paired with PTCH1 mutations. Conclusions: In addition to PTCH1 gene mutations, SMO gene mutations also exist in OKC which might be related to the development of OKC.

Clinicopathological analysis of 844 cases of odontogenic keratocysts / 北京大学学报(医学版)

OBJECTIVE@#To investigate the clinicopathologic features and prognostic factors in odontogenic keratocyst (OKC), and to provide new reference for clinic treatment and management of these patients.@*METHODS@#Clinicopathological data of 844 cases initially diagnosed as or associated with OKC at Department of Oral Pathology, Peking University Hospital of Stomatology from 2000 to 2018 were collected. The cases were divided into 4 groups: sporadic OKCs (intraosseous, cystic lesion irrelevant to nevoid basal cell carcinoma syndrome), syndromic OKCs, solid OKCs and peripheral OKCs. The patients were follow-up for 6 to 216 months and the factors that might relate to recurrence were analyzed.@*RESULTS@#There were 805 cases (95.4%) of sporadic OKCs, 32 cases (3.8%) of syndromic OKCs, 3 cases of solid OKCs and 4 cases of peripheral OKCs. The main age of sporadic OKCs was 36.03 years with the peak at the second and third decades. Ratio of male and female was 1.27:1. The predilection site was the molar and ramus area of mandibular (56.2%). In the study, 428 cases (71.2%) were unilocular in radiography while 28.8% were multilocular. The recurrent rate of enucleation with the follow-up was 20.1% (118/588) while most of them occurred in 1-3 years after surgery. The recurrent rate of multilocular patients (39.0%) was significantly higher than that of the unilocular. Enucleation after marsupialization (43 cases) or enucleation only (545 cases) showed no difference in recurrence (P>0.05). The syndromic OKCs was younger (main 20.97) and preferred to be multiple compared with sporadic OKCs (30/32, 93.7%). The predilection site was also molar and ramus area of mandibular (41.7%). Age and gender distribution of multiple cases had no significant difference with those in sporadic OKCs. More daughter cysts and epithelial islands were seen (56.3% and 17.9%). Furthermore, the recurrent rate was significantly higher than that of the sporadic OKCs (13/29, 44.9%). But there was no evidence of recurrent-related factors. The age of solid and peripheral OKCs, averaged at 45.00 and 65.75 years, were older than others. Four of peripheral OKCs showed no recurrence after enucleation.@*CONCLUSION@#The recurrence rate of sporadic OKCs after enucleation is 20.1%. The multilocular lesions prefer to be recurrent. There is no significant difference of recurrence with enucleation only or enucleation after marsupialization. Compared with sporadic OKCs, the syndromic patients are younger and easier to be multiple. It tends to be recurrent frequently and rapidly. There are no related factors about recurrence of syndromic patients. The clinicians should considerate comprehensively and make an individual management of therapy and follow-up. Solid and peripheral OKCs are rare and older.