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首页> 外文期刊>The Journal of craniofacial surgery >Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome
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Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome

机译：Nevoid基础细胞癌综合征中的新型PTCH1基因突变

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The purpose of this study was to report clinical characteristics, surgical results, and new PTCH1 gene mutations in nevoid basal cell carcinoma syndrome (NBCCS). Five patients were referred to the Department of Oral and Maxillofacial Surgery from local dental clinics between 2006 and 2016 to treat multiple keratocystic odontogenic tumors (KOTs). The cystic lesions were enucleated and peripheral ostectomy was performed to obtain safety margin. Recurrence and/or de novo development of KOT were assessed. Gene analysis using peripheral blood was performed in all patients to identify the mutation of PTCH1 gene. Three patients showed familial history of first-degree relatives. Of the major criteria, all patients presented KOT but only 1 patient had basal cell carcinoma. Of the minor criteria, 4 of the 5 patients presented macrocephaly and hypertelorism. During follow-up periods, all patients showed recurrence and/or de novo development of KOT in the jaw bone. Mutation analysis of PTCH1 gene showed 3 frameshifts (c.817_818ins(T), c.1226_1227ins(A), and c.2748del(C)), 1 splicing (c.1504-2AT), and 1 missense (c.385TC) mutation. Mutations were found in exon 1, 6, 9, 17, and intron 10. Regular follow-up is necessary because recurrence rate of KOT was very high. To help early diagnosis, it is essential to routinely perform genetic testing to detect PTCH1 gene mutations among patients with NBCCS.
机译：本研究的目的是报告临床特征，手术结果和Nevoid基础细胞癌综合征（NBCC）的新PTCH1基因突变。从2006年至2016年之间从当地牙科诊所提到了5名患者的口腔和颌面外科部门治疗多个角膜囊肿的牙科遗传学肿瘤（KOTS）。囊性病变被诱发，进行外周骨切除术以获得安全裕度。评估了KOT的再次和/或DE NOVO开发。在所有患者中进行使用外周血的基因分析以鉴定PTCH1基因的突变。三名患者展示了一级亲属的家庭历史。在主要标准中，所有患者均呈现KOT，但只有1例患者有基础细胞癌。在5名患者中的4个患者中的4个次要标准中的4个患者。在随访期间，所有患者在颌骨中显示出复发和/或De Novo开发KOT。 PTCH1基因的突变分析显示3个帧间（C.817_818汀汀（T），C.1226_122.INS（A）和C.2748DEL（C）），1拼接（C.1504-2A＆GT; T），1次刻度（C。 385t＆ c）突变。在外显子1,6,9,17和Intron 10中发现突变。正常随访是必要的，因为KOT的复发率非常高。为了帮助早期诊断，必须常规进行遗传测试以检测NBCC患者的PTCH1基因突变。

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