我国Peutz-Jeghers综合征患者合并恶性肿瘤的临床分析

背景：Peutz-Jeghers综合征（PJS）为一种常染色体显性疾病，可合并多种恶性肿瘤，但肿瘤风险仍未阐明。目的：总结我国PJS患者合并恶性肿瘤的临床特征。方法：以黑斑息肉、Peutz-Jeghers为关键词在万方和中国知网两个数据库中检索1979年1月～2008年10月发表的有关PJS的271篇文献，对合并恶性肿瘤患者的临床特征进行分析。结果：共纳入PJS患者1504例，其中207例（13．8％）合并恶性肿瘤，男女比例约1：1．05。PJS合并的恶性肿瘤中，以消化系肿瘤和妇女相关肿瘤最为常见，分别为155例（74．9％）和24例（11．6％）。PJS患者发生恶性肿瘤频率最高的年龄段为31～50岁，13～50岁PJS患者合并恶性肿瘤的频率达90．9％。PJS合并恶性肿瘤的发生率明显高于普通人群。结论：PJS患者合并恶性肿瘤的发生率明显增高，应积极处理胃肠道息肉和筛查全身肿瘤。

Clinical Analysis of Patients with Peutz-Jeghers Syndrome Combined with Malignant Tumors in China

Background： Peutz-Jeghers syndrome （PJS） is an autosomal dominant disorder and can be combined with various malignant tumors, but its tumor risk still remains unclear. Aims： To summarize the clinical characteristics of PJS patients combined with malignant tumors in China. Methods： A total of 271 articles about PJS were retrieved from Wanfang database and China National Knowledge Infrastructure （CNKI） database using black spot polyp or Peutz-Jeghers as key words from January 1979 to October 2008, and clinical characteristics of PJS patients combined with malignant tumors were analyzed. Results： A total of 1504 patients with PJS were enrolled. There were 207 eases （13.8%） of PJS patient developed malignant tumors, and the ratio of male to female was 1：1.05. The most common malignant tumors were 155 cases of gastrointestinal tumor （74.9%） and 24 cases of gynecologic tumor （11.6%）. The highest incidence rate of malignant tumor in PJS patients was seen in 31-50 year age group, and the risk of tumor from 13 to 50 years of age was 90.9%. Compared with natural population, the morbidity of malignant tumors in PJS patients was significantly increased. Conclusions： Patients with PJS are associated with increased risk of malignant tumors. Early treatment of the polyps and active cancer screening are both very important.