Cancer Control and Population Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City
Huntsman Cancer Institute, Department of Medicine (Gastroenterology), University of Utah, Salt Lake City
JAMA Oncol. 2017 Dec 1;3(12):1697-1701. doi: 10.1001/jamaoncol.2017.0769.
The data describing cancer risks associated with Lynch syndrome are variable.
To quantify the prevalence of families that fulfill the Amsterdam I or II criteria for Lynch syndrome in the Utah population and investigate the risk of colonic and extracolonic cancers in family members and their relatives.
DESIGN, SETTING, AND PARTICIPANTS: In a population-based study, 202 families with Amsterdam I and II criteria–positive pedigrees in the Utah Population Database were identified. Of these, all cancer diagnoses in members of families with Amsterdam criteria and their first-degree, second-degree, and first-cousin relatives were located through linkage to the Utah Cancer Registry. The study was conducted from May 1 to June 30, 2016.
Standardized morbidity ratios (SMRs) were estimated by comparing the observed rates of cancer in relatives with population-expected rates estimated internally from the Utah Population Database.
A total of 202 families meeting Amsterdam criteria for Lynch syndrome accounted for 2.6% of all colorectal cancers in the state; of these, 59 met both the Amsterdam I and Amsterdam II criteria. Cancers observed in significant excess in the first-degree relatives of Amsterdam criteria pedigrees included colorectal (SMR, 10.10; 95% CI, 9.43-10.81), endometrial (SMR, 5.89; 95% CI, 5.09-6.78), stomach (SMR, 2.90; 95% CI, 2.02-4.03), small intestine (SMR, 7.72; 95% CI, 5.17-11.08), prostate (SMR, 1.94; 95% CI, 1.73-2.17), kidney (SMR, 3.22; 95% CI, 2.45-4.16), urinary bladder (SMR, 1.62; 95% CI, 1.22-2.12), thyroid (SMR, 2.26; 95% CI, 1.55-3.17), and non-Hodgkin lymphoma (SMR, 2.10; 95% CI, 1.64-2.65). Risks of colorectal and endometrial cancers were also found to be elevated in second-degree (SMR, 4.31; 95% CI, 3.98-4.65 and SMR, 2.70; 95% CI, 2.30-3.14, respectively) and first-cousin (SMR, 1.85; 95% CI, 1.70-2.00 and SMR, 1.50; 95% CI, 1.29-1.73, respectively) relatives of families with Amsterdam criteria.
In this population-based study of cancer risk in families fulfilling the Amsterdam criteria, many of the cancers previously reported to be associated with Lynch syndrome were observed, several previously unreported cancer associations were noted, and the risk of colorectal and endometrial cancer were markedly increased in first-, second-, and even third-degree relatives of these families. This study provides clinicians with population-based, unbiased data to counsel members of families meeting the Amsterdam criteria regarding their elevated risks of cancer and the importance of cancer screening.
与林奇综合征相关的癌症风险数据是多变的。
量化在犹他州人群中符合林奇综合征阿姆斯特丹 I 或 II 标准的家族的患病率，并研究家族成员及其亲属结直肠癌和结外癌症的风险。
设计、地点和参与者：在一项基于人群的研究中，在犹他州人群数据库中确定了 202 个具有阿姆斯特丹 I 和 II 标准阳性家族史的家族。其中，所有具有阿姆斯特丹标准的家族成员以及他们的一级、二级和第一代表亲的癌症诊断都通过与犹他癌症登记处的联系来定位。该研究于 2016 年 5 月 1 日至 6 月 30 日进行。
通过将亲属的观察到的癌症发病率与内部从犹他州人群数据库估计的人口预期发病率进行比较，估计标准化发病比 (SMR)。
总共 202 个符合林奇综合征阿姆斯特丹标准的家族占该州所有结直肠癌的 2.6%；其中 59 个家族同时符合阿姆斯特丹 I 和阿姆斯特丹 II 标准。在阿姆斯特丹标准家族史的一级亲属中观察到显著过多的癌症包括结直肠癌（SMR，10.10；95%CI，9.43-10.81）、子宫内膜癌（SMR，5.89；95%CI，5.09-6.78）、胃癌（SMR，2.90；95%CI，2.02-4.03）、小肠癌（SMR，7.72；95%CI，5.17-11.08）、前列腺癌（SMR，1.94；95%CI，1.73-2.17）、肾癌（SMR，3.22；95%CI，2.45-4.16）、膀胱癌（SMR，1.62；95%CI，1.22-2.12）、甲状腺癌（SMR，2.26；95%CI，1.55-3.17）和非霍奇金淋巴瘤（SMR，2.10；95%CI，1.64-2.65）。还发现二级（SMR，4.31；95%CI，3.98-4.65 和 SMR，2.70；95%CI，2.30-3.14）和第一代表亲（SMR，1.85；95%CI，1.70-2.00 和 SMR，1.50；95%CI，1.29-1.73）的结直肠癌和子宫内膜癌风险也升高。
在这项基于人群的符合阿姆斯特丹标准的家族癌症风险研究中，观察到了许多以前报道与林奇综合征相关的癌症，注意到了一些以前未报道的癌症关联，并且这些家族的一级、二级甚至三级亲属的结直肠癌和子宫内膜癌风险显著增加。本研究为临床医生提供了基于人群的、无偏倚的数据，以就其升高的癌症风险和癌症筛查的重要性为符合阿姆斯特丹标准的家族成员提供咨询。
