Frequency and spectrum of cancers in the Peutz-Jeghers syndrome
Frequency and spectrum of cancers in the Peutz-Jeghers syndrome
复制标题
DOI：
10.1158/1078-0432.ccr-06-0083
复制
发表时间：
2006-05-15
影响因子：
11.5
通讯作者：
Houlston, Richard S.
中科院分区：
文献类型：
--
作者：
Hearle, Nicholas;Schumacher, Valerie;Houlston, Richard S.
背景资料：虽然Peutz-Jeghers综合征的癌症风险增加，但与该疾病相关的肿瘤谱和生殖系STK 11/LKB 1的影响的数据实验设计：我们分析了419例Peutz-Jeghers综合征患者的癌症发病率，其中297例记录了STK 11/LKB 1突变。在Peutz-Jeghers综合征患者中发现了96种癌症。在20岁、30岁、40岁、50岁、60岁和70岁时患癌症的风险分别为2%、5%、17%、31%、60%和85%。在这项分析中，最常见的癌症是胃肠道、胃食管、小肠、结肠直肠和胰腺癌，这些癌症在30岁、40岁、50岁和60岁时的风险分别为1%、9%、15%和33%。在Peutz-Jeghers综合征的女性中，乳腺癌的风险大幅增加，在40岁和60岁时分别为8%和31%。Kaplan-Meier分析显示，具有确定的STK 11/LKB 1 2突变的Peutz-Jeghers综合征患者与没有检测到突变的患者的癌症风险相似（差异χ 2的对数秩检验= 0.62; 1 df; P = 0.43）。此外，STK 11/LKB 1突变的类型或位点并没有显着影响cancer risk.Conclusions：我们的研究结果提供了定量信息谱的癌症和风险的特定癌症类型与Peutz-Jeghers综合征。
Background: Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line STK11/ LKB1 (serine/threonine kinase) mutation status are limited.Experimental Design: We analyzed the incidence of cancer in 419 individuals with Peutz-Jeghers syndrome, and 297 had documented STK11/LKB1 mutations.Results: Ninety-six cancers were found among individuals with Peutz-Jeghers syndrome. The risk for developing cancer at ages 20, 30, 40, 50, 60, and 70 years was 2%, 5%, 17%, 31%, 60%, and 85%, respectively. The most common cancers represented in this analysis were gastrointestinal in origin, gastroesophageal, small bowel, colorectal, and pancreatic, and the risk for these cancers at ages 30, 40, 50, and 60 years was 1%, 9%, 15%, and 33%, respectively. In women with Peutz-Jeghers syndrome, the risk of breast cancer was substantially increased, being 8% and 31% at ages 40 and 60 years, respectively. Kaplan-Meier analysis showed that cancer risks were similar in Peutz-Jeghers syndrome patients with identified STK11/LKB1 2 mutations and those with no detectable mutation (log-rank test of difference chi(2) = 0.62; 1 df; P = 0.43). Furthermore, the type or site of STK11/LKB1 mutation did not significantly influence cancer risk.Conclusions: The results from our study provide quantitative information on the spectrum of cancers and risks of specific cancer types associated with Peutz-Jeghers syndrome.