Peutz-Jeghers综合征:恶性肿瘤高风险人群

High risk of cancer in Peutz-Jeghers syndrome

目的:评估Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)患者并发恶性肿瘤的风险,提出监测建议.方法:通过Pubmed检索PJS并发恶性肿瘤的群组研究文献,并摘录符合条件的20篇文献中的相关资料进行分析.结果:共纳入3302例PJS患者,其中573人(17.35%)并发619例恶性肿瘤,包括消化系肿瘤368例(60.23%),非消化系肿瘤243例(39.77%).并发的常见恶性肿瘤中,依次为结直肠癌、小肠癌、乳腺癌、胃食管癌、妇科癌、胰腺癌、肺癌,且国内外发病频率具有一致性;PJS患者恶性肿瘤高发年龄段为11-70岁,国内患者有较年轻化的趋势.PJS并发任意癌的相对风险为9.0-18,并发消化系肿瘤的相对风险为13-50.5,并发乳腺癌的相对风险为13.9-20.3,并发妇科癌的相对风险为20.3,各年龄段癌症累积风险明显增高.有无STK11/LKB1基因突变对PJS并发恶性肿瘤风险无明显影响(P>0.05).结论:PJS患者为恶性肿瘤的高风险人群,其并发消化系肿瘤及消化系外癌的风险明显增高,应加强随诊筛查恶性肿瘤.

AIM： To assess cancer risk in patients with Peutz–Jeghers syndrome （PJS） and to develop a surveillance recommendation. METHODS： A systematic PubMed search was performed to analyze related data of cancer in patients with PJS described in 20 cohort studies. RESULTS： The cohort studies included 3？302 patients in total, and 573 （17.35%） of them developed 619 cases of cancer, including 368 （60.23%） cases of gastrointestinal and 243 （39.77%） cases of non-gastrointestinal cancers. The most common malignancy was colorectal cancer, followed by small bowel, breast, gastroesophageal, gynecological, pancreatic, and lung cancers. The age range of the high incidence rate of cancer was 11-70 years old, and seemed younger among Chinese patients than that in other countries. The lifetime relative risks for any cancer ranged from 9.9 to 18, for gastrointestinal cancer was 13 to 50.5, breast cancer 13.9 to 20.3, and gynecological cancer was 20.3 compared with the general population. Obviously, the age-related cumulative risks are increasing. The STK11/LKB1 mutation did not significantly influence cancer risk （P 0.05）. CONCLUSION： Patients with PJS have markedly increased relative and absolute risk for gastrointestinal and non-gastrointestinal cancers. In order to improve the outcome for PJS patients, it is very important to strengthen cancer surveillance and closer follow-up in an early phase.