Department of Gastroenterology and Hepatology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Am J Gastroenterol. 2010 Jun;105(6):1258-64; author reply 1265. doi: 10.1038/ajg.2009.725. Epub 2010 Jan 5.
Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder associated with increased cancer risk. Surveillance and patient management are, however, hampered by a wide range in cancer risk estimates. We therefore performed a systematic review to assess cancer risks in PJS patients and used these data to develop a surveillance recommendation.
A systematic PubMed search was performed up to February 2009, and all original articles dealing with PJS patients with confirmed cancer diagnoses were included. Data involving cancer frequencies, mean ages at cancer diagnosis, relative risks (RRs), and cumulative risks were collected.
Twenty-one original articles, 20 cohort studies, and one meta-analysis fulfilled the inclusion criteria. The cohort studies showed some overlap in the patient population and included a total of 1,644 patients; 349 of them developed 384 malignancies at an average age of 42 years. The most common malignancy was colorectal cancer, followed by breast, small bowel, gastric, and pancreatic cancers. The reported lifetime risk for any cancer varied between 37 and 93%, with RRs ranging from 9.9 to 18 in comparison with the general population. Age-related cumulative risks were given for any cancer and gastrointestinal, gynecological, colorectal, pancreatic, and lung cancers.
PJS patients are markedly at risk for several malignancies, in particular gastrointestinal cancers and breast cancer. On the basis of these elevated risks, a surveillance recommendation is developed to detect malignancies in an early phase and to remove polyps that may be premalignant and may cause complications, so as to improve the outcome.
Peutz-Jeghers 综合征（PJS）是一种常染色体显性遗传疾病，与癌症风险增加有关。然而，由于癌症风险估计值范围广泛，因此监测和患者管理受到阻碍。因此，我们进行了系统评价，以评估 PJS 患者的癌症风险，并使用这些数据制定监测建议。
系统地在 PubMed 上进行了搜索，截至 2009 年 2 月，并纳入了所有涉及经证实患有癌症的 PJS 患者的原始文章。收集了涉及癌症频率、癌症诊断平均年龄、相对风险（RR）和累积风险的数据。
有 21 篇原始文章、20 项队列研究和 1 项荟萃分析符合纳入标准。这些队列研究在患者人群上存在一些重叠，共纳入了 1644 名患者；其中 349 名患者在平均年龄为 42 岁时患上了 384 种恶性肿瘤。最常见的恶性肿瘤是结直肠癌，其次是乳腺癌、小肠癌、胃癌和胰腺癌。报告的终生任何癌症风险在 37%至 93%之间，与普通人群相比，RR 范围为 9.9 至 18。给出了任何癌症以及胃肠道、妇科、结直肠、胰腺和肺癌的年龄相关累积风险。
PJS 患者患有多种恶性肿瘤的风险明显增加，特别是胃肠道癌症和乳腺癌。基于这些较高的风险，制定了监测建议，以早期发现恶性肿瘤并切除可能是癌前病变并可能引起并发症的息肉，从而改善预后。
