Defining Phenotypes and Cancer Risk in Hyperplastic Polyposis Syndrome
Defining Phenotypes and Cancer Risk in Hyperplastic Polyposis Syndrome
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DOI：
10.1007/dcr.0b013e3181fd4c15
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发表时间：
2011-02-01
影响因子：
3.9
通讯作者：
Church, James M.
中科院分区：
文献类型：
--
作者：
Kalady, Matthew F.;Jarrar, Awad;Church, James M.
背景：增生性息肉病综合征是一种罕见的结直肠癌易感性综合征。增生性息肉病的遗传模式不明显，临床定义相对武断。我们假设有多种表型包括目前所谓的增生性息肉病综合征。我们对大量出现多个锯齿状息肉的患者进行了回顾，以寻找可能证实我们假设的临床模式。方法：查询来自单一机构的遗传性结直肠癌、结肠镜检查和临床数据库中符合以下标准的患者：1)>= 20锯齿状结直肠息肉；2) >= 5个锯齿状息肉近乙状结肠；3) >= 2个锯齿状息肉，>= 10mm；4)至少有一名一级亲属患有增生性息肉综合征的人的任何锯齿状息肉。回顾了人口统计学、息肉细节、个人或家族结直肠结肠外恶性肿瘤病史。结果：共纳入115例患者。诊断时的中位年龄为62岁，56%为男性。97%是白人。25%的患者有个人病史，38%的患者有结直肠癌家族史。28%的患者有个人病史，54%的患者有结肠癌家族史。表型分析确定了3种模式：相对较少的大的右侧息肉（n = 55），许多小的左侧息肉（n = 18），以及左右息肉的组合（n = 42）。右侧表型有更多的无梗锯齿状息肉，并倾向于在年轻时发展为结直肠癌。结论：增生性息肉病至少有3种不同但重叠的临床表型。认识到这种临床异质性对于确定潜在的遗传原因很重要。
BACKGROUND: Hyperplastic polyposis syndrome is a rare syndrome of colorectal cancer predisposition. Patterns of inheritance of hyperplastic polyposis syndrome are not obvious and the clinical definition is relatively arbitrary. We hypothesize that there are multiple phenotypes included in what is currently called hyperplastic polyposis syndrome. We performed this review of a large series of patients who presented with multiple serrated polyps to look for clinical patterns that may confirm our hypothesis.METHODS: Hereditary colorectal cancer, colonoscopy, and clinical databases from a single institution were queried for patients meeting the following criteria: 1) >= 20 serrated colorectal polyps; 2) >= 5 serrated polyps proximal to the sigmoid; 3) >= 2 serrated polyps >= 10 mm in size; 4) any serrated polyps in a person with at least one first-degree relative who has hyperplastic polyposis syndrome. Records were reviewed for demographics, polyp details, and personal or family history of colorectal extracolonic malignancy.RESULTS: One-hundred fifteen patients were included. Median age at diagnosis was 62 years and 56% were male. Ninety-seven percent were white. Twenty-five percent of patients had a personal history and 38% had a family history of colorectal cancer. Twenty-eight percent of patients had a personal history and 54% had a family history of extracolonic cancer. Phenotype analysis identified 3 patterns: relatively few large, right-sided polyps (n = 55), many small left-sided polyps (n = 18), and a combination of both left-and right-sided polyps (n = 42). The right-sided phenotype had more sessile serrated polyps and tended to develop colorectal cancer at a younger age.CONCLUSIONS: There are at least 3 different but overlapping clinical phenotypes within hyperplastic polyposis. Recognizing this clinical heterogeneity is important in defining underlying genetic causes.