髁突骨软骨瘤患者EXT基因的突变检测  

Detection of EXT gene mutations in patients with sporadic osteochondroma of condyle

作　　者：周琴[1] 陈敏洁[1] 杨驰[1] 

机构地区：[1]上海交通大学医学院附属第九人民医院.口腔医学院口腔外科上海市口腔医学重点实验室,上海200011

出　　处：《中国口腔颌面外科杂志》2015年第6期521-524,共4页China Journal of Oral and Maxillofacial Surgery

基　　金：上海高校青年教师培养资助计划(ZZjdyx13106)~~

摘　　要：目的 :对EXT1及EXT2基因在单发性髁突骨软骨瘤中的突变情况进行检测。方法 :收集12例手术治疗患者的组织标本,提取基因组DNA,对包含5’UTR区、编码区、外显子-内含子交界区及3’UTR区的PCR产物进行直接测序分析,并将结果与国际数据库中的数据进行对比。结果:发现4个不同的EXT1基因的单核苷酸多态性(SNPs),其中3个位于内含子区,1个位于编码区,位于编码区的突变为同义突变。该4个多态性位点以前均已报道。3个EXT2基因的SNPs,1个位于编码区,1个位于5’UTR区,1个位于内含子区。编码区突变为同义突变,内含子区突变以前未见报道。结论:EXT1及EXT2基因突变与单发性髁突骨软骨瘤的相关性可能不大,但其致病情况有待于进一步研究。PURPOSE ： To evaluate the efficacy and safety of propranolol for the treatment of deep infantile hemangiomas（IH） on the parotid area. METHODS ： Oral propranolol at a dose of 1.0-1.5 mg/kg three times per day was administered to 23 deep parotid IHs.The duration of treatment ranged from 6 to 10 months. The changes of the tumor colour and texture were monitored and recorded at a regular interval. At the same time, size was documented by ultrasound echo color doppler. The adverse effects after medication were observed and managed accordingly. To assess the efficacy, a 4 scales system was adopted. RESULTS ： The average propranolol treatment duration for the 23 patients was 7.8 months, the overall response was slight in 0 patient,moderate in 1 patients, good in 4 patients,and excellent in 18 patients. No serious adverse events were encountered.A second course of propranolol readily controlled the rebound growth of deep IH in 3 patients（13%）. CONCLUSIONS ： Propranolol yielded excellent results with very good clinical tolerance and also seems to be effective for IH rebound growth. The optimal duration of the treatment remains to be defined by long-term observation.

关 键 词：髁突骨软骨瘤 EXT1 EXT2 突变 

分 类 号：R739.8[医药卫生—肿瘤]