中国Peutz-Jeghers综合征患者STK11基因突变检测及高频突变分析  

Detection of STK11 gene mutation in Chinese Peutz-Jeghers syndrome patients and high frequency mutation analysis

作　　者：蒋宇亮 李伟聪[3] 赵子夜[4] 李白容[1] 毛旭艳 宁守斌[1] JIANG Yu-liang LI Wei-cong ZHAO Zi-ye LI Bai-rong MAO Xu-yans NING Shou-bin(Department of Gastroenterology, Air Force General Hospital of PLA , Beijin g 100142, China Hebei North University Graduate College, Hebei Province, Zhangjiakou 075061, China The Second Department of Geriatrics, Aerospace Central Hospital, Beijin g 100040, China The First Department of Surgery, the 273rd Hospital of PLA, Korla 841007,China Department of Gastroenterology, Xinhua Hospital, Beijing 101100, China)

机构地区：[1]中国人民解放军空军总医院消化科,北京100142 [2]河北北方学院研究生院,河北张家口075061 [3]航天中心医院老年2科,北京100040 [4]中国人民解放军第二七三医院外一科,新疆库尔勒841007 [5]北京市通州区新华医院消化科,北京101100

出　　处：《河北医科大学学报》2017年第8期878-881,896,共5页Journal of Hebei Medical University

基　　金：中国人民解放军空军总医院年度计划课题(kz2015026;kz2016021)

摘　　要：目的分析Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)患者丝/苏氨酸蛋白激酶11(serine/threonine kinase 11,STK11)基因突变情况,探讨不同STK11基因突变与临床特征的关系。方法选择完成STK11所有外显子基因测序的患者54例,分析其临床表现及突变分布规律,并比较不同突变间临床特征。结果 54例患者中,33例在STK11基因编码区检测出点突变,先证者30例(检出率58.8%,30/51),家族突变检出率为55.0%(11/20),散发突变检出率为55.9%(19/34)。3个家系共5例患者在同一位点突变(c.180C>G),疑为高频突变;另1个家系的2例患者突变位点一致(c.658C>T);1例患者同时检测到2个突变位点;剩余26例患者携带突变各不相同。c.180C>G首次发病年龄和首次手术年龄≤7岁患者中所占比例明显高于其他突变,差异有统计学意义(P<0.05);c.180C>G与其他突变在性别、家族史、肿瘤史、腹部症状、手术史差异均无统计学意义(P>0.05)。结论STK11基因突变是PJS发病的主要致病原因。发现1例可疑为高频突变,该突变患者首次发生症状及接受首次手术年龄均低于其他突变患者,应在临床监测及治疗过程中多予以关注。Objective To analyze serine/threonine kinase 11 （STKll） gene in patients with Peutz-Jeghers syndrome（PJS）, and explore the relationship between different mutations and clinical features. Methods The sequencing of STK11 gene coding region was analyzed from 54 inpatients with PJS. Their clinical manifestations and mutations were analyzed. The clinical characteristics of different mutations were compared. Results Of the 54 patients with PJS, 33 cases were found to have mutations in the coding region of STKll gene. Among them, 30 cases were probands （the mutation detection rate was 58.8%, 30/51）, the mutation detection rate of familial patient was 55.0%（11/20）, and the mutation detection rate sporadic patient was 55.9%（19/34）. The 5 patients from 3 families had the same point mutation（c. 180C〉G）, which was suspected high frequency mutation. In another family, 2 patients also had the same mutation（c. 658C〉T）. A patient had two mutations; the other 26 patients had a single mutation site. The proportion of patients with c.180C〉G in the first onset age and the first surgery age〈7 years of symptoms and undergo surgery earlier than other patients. We should pay more attention in clinical monitoring and treatment.

关 键 词：PEUTZ-JEGHERS综合征 p21活化激酶类 基因 突变 

分 类 号：R574[医药卫生—消化系统] R730.269[医药卫生—内科学]