中国Peutz-Jeghers综合征女性患者妇科疾病诊治现状调查  

Questionnaire survey on current status of clinical screening and treatment of gynecological disease in females with Peutz-Jeghers syndrome

作　　者：石月 陈奕清 丁景新 宁燕 汪清 马凤华 谭灏文 康玉 SHI Yue;CHEN Yiqing;DING Jingxin;NING Yan;WANG Qing;MA Fenghua;TAN Haowen;KANG Yu(Department of Gynecological Oncology,Obstetrics and Gynecology Hospital of Fudan University,Shanghai 200090,China;School of Clinical Medicine,Shanghai Medical College,Fudan University,Shanghai 200032,China;Jiangxi Heyin Education Technology Co.Ltd.,Ganzhou 342604,Jiangxi Province,China)

机构地区：[1]复旦大学附属妇产科医院妇科肿瘤科,上海200090 [2]复旦大学上海医学院临床医学院,上海200032 [3]江西合因教育科技有限公司,江西赣州342604

出　　处：《中国癌症杂志》2022年第11期1049-1064,共16页China Oncology

基　　金：上海申康医院发展中心临床科技创新项目(SHDC12020108);上海市老龄化和妇儿健康研究专项(2020YJZX0202)。

摘　　要：背景与目的:Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)相关的妇科疾病包括小叶状子宫颈内膜腺体增生(lobular endocervical glandular hyperplasia,LEGH)、子宫颈胃型腺癌(gastric type adenocarcinoma of the uterine cervix,GAS)和卵巢环状小管性索肿瘤(sex cord tumor with annular tubules,SCTAT)等。特别是LEGH发病早,疾病进展为GAS快,早诊困难,预后不佳,为患者诊治带来了巨大挑战。目前相关研究数据,尤其是在中国进行的临床研究有限。本研究旨在调查中国PJS患者妇科相关疾病的临床表现、患病情况、健康筛查及诊治现状,以期帮助指导早筛早诊,为PJS女性妇科疾病,特别是为恶性肿瘤的诊治和预后预测提供可靠的临床依据。方法:基于目前妇科临床PJS患者诊疗现状、患者反馈,结合文献阅读设计针对性调查问卷,并于2022年3月26日—2022年7月29日发放,以有效填写的患者为调查对象,统计患者的一般情况、既往史、家族史、妇科临床表现和诊疗情况。对各项目进行分层分析以找出相关高危因素保护因素及诊疗欠缺之处。结果:本调查共回收有效问卷154份,根据入组和排除标准剔除5份,149例患者中114例(76.51%)具有妇科临床症状,主诉多为异常子宫出血(55.70%),近一半(41.61%)患者诉阴道排液。不到一半(47.65%)的患者接受过子宫颈筛查,人乳头状瘤病毒(human papilloma virus,HPV)阳性率低(7.04%)。约1/3(36.91%)的患者接受过基因检测,52例(94.5%)的患者存在STK11突变,其中64.52%系蛋白截断突变,但在癌症和癌前病变发病率及发病年龄上差异无统计学意义。胚系突变遍布整个基因,但未发现位于非编码的9号外显子(E9)上的突变,突变发生率最高为E7(25.81%)。本研究中,无亲缘关系的患者携带相同突变,其发病年龄和疾病谱完全不同。因妇科肿瘤接受手术的患者中,1/3出现了女性生殖道多部位同步胃型黏液性病变(synchronous mucinous meBackground and purpose:Peutz-Jeghers syndrome(PJS)-related diseases in female reproductive system include lobular endocervical glandular hyperplasia(LEGH),gastric type adenocarcinoma of the uterine cervix(GAS)and sex cord tumor with annular tubules(SCTAT),etc.In particularly,PJS-related LEGH has an early age-onset,and the disease could progress rapidly to GAS.Early diagnosis is difficult,and the prognosis has been proved poor,which brings great challenges to the diagnosis and treatment of patients.Research data are limited,especially in China.The purpose of this study was to investigate the clinical manifestations,disease pattern,related risk factors,and the status of disease screening,management of gynecological diseases in Chinese PJS patients,providing more clinical evidence and helping with the early screening and early diagnosis of gynecological diseases,especially malignant diseases in female PJS patients.Methods:Based on the status of management of gynecological diseases in female patients with PJS and patients’feedback,our questionnaire was designed and launched from March 26th,2022 to July 29th,2022.The general condition,past family history,past medical history,gynecological clinical manifestations and management of the patients were investigated.A stratified analysis of each item was conducted to find out the high-risk factors and protective factors associated.Results:A total of 154 valid questionnaires were recruited in our study,and 5 patients were excluded according to the inclusion/exclusion criteria.114/149 patients(76.51%)had gynecological symptoms,and the main complaint was abnormal uterine bleeding(83 patients,55.70%),nearly half of them had vaginal watery discharge(62 patients,41.61%),47.65%(71/149)had received cervical screening tests,and the human papilloma virus(HPV)positive rate was only 7.04%.Only one-third of the patients(55/149,36.91%)had received genetic testing,and 52 patients had STK11 mutations(94.5%).64.52%were truncating mutations,but with no significant differences in the incide

关 键 词：黑斑息肉综合征 STK11基因 妇科肿瘤 小叶状子宫颈内膜腺体增生 子宫颈胃型腺癌 蛋白截断突变 

分 类 号：R737.33[医药卫生—肿瘤]