佩-吉综合征中癌症的发生率及谱型

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome.

作者信息

Hearle Nicholas, Schumacher Valérie, Menko Fred H, Olschwang Sylviane, Boardman Lisa A, Gille Johan J P, Keller Josbert J, Westerman Anne Marie, Scott Rodney J, Lim Wendy, Trimbath Jill D, Giardiello Francis M, Gruber Stephen B, Offerhaus G Johan A, de Rooij Felix W M, Wilson J H Paul, Hansmann Anika, Möslein Gabriela, Royer-Pokora Brigitte, Vogel Tilman, Phillips Robin K S, Spigelman Allan D, Houlston Richard S

机构信息

Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom.

出版信息

Clin Cancer Res. 2006 May 15;12(10):3209-15. doi: 10.1158/1078-0432.CCR-06-0083.

DOI:10.1158/1078-0432.CCR-06-0083

PMID:16707622

Abstract

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 mutations and those with no detectable mutation (log-rank test of difference chi2 = 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.

摘要

背景

尽管黑斑息肉综合征患者患癌风险增加已得到证实，但关于该疾病相关肿瘤谱以及种系STK11/LKB1（丝氨酸/苏氨酸激酶）突变状态影响的数据有限。

实验设计

我们分析了419例黑斑息肉综合征患者的癌症发病率，其中297例有记录的STK11/LKB1突变。

结果

在黑斑息肉综合征患者中发现了96例癌症。20岁、30岁、40岁、50岁、60岁和70岁时患癌风险分别为2%、5%、17%、31%、60%和85%。该分析中最常见的癌症起源于胃肠道，包括胃食管、小肠、结肠和胰腺，30岁、40岁、50岁和60岁时这些癌症的风险分别为1%、9%、15%和33%。在黑斑息肉综合征女性患者中，乳腺癌风险显著增加，40岁和60岁时分别为8%和31%。Kaplan-Meier分析表明，已鉴定出STK11/LKB1突变的黑斑息肉综合征患者和未检测到突变的患者患癌风险相似（差异的对数秩检验χ2 = 0.62；1自由度；P = 0.43）。此外，STK11/LKB1突变的类型或位点对患癌风险没有显著影响。