Feldman Dan, Rodgers-Fouche Linda, Chung Daniel C
Division of Gastroenterology, Massachusetts General Hospital, and Harvard Medical School, Boston, Massachusetts.
Center for Cancer Risk Assessment, Cancer Center, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
Gastro Hep Adv. 2022 Jul 31;2(1):16-21. doi: 10.1016/j.gastha.2022.07.018. eCollection 2023.
A family history of colorectal cancer (CRC) in a first-degree relative is a well-established risk factor for CRC. When individuals have 2 parents with CRC, the impact on risk is uncertain, and there are no established guidelines for surveillance. We sought to define the surveillance practices and outcomes in individuals with a family history of CRC in both parents.
We identified probands with a family history of CRC in both parents from our Hereditary Gastrointestinal Cancer Database. Charts were retrospectively reviewed for colonoscopy surveillance patterns and incidence of adenomas and CRC.
Sixty-six patients met the inclusion criteria. Forty-two patients (64%) had genetic testing, and no pathogenic germline mutations were identified. During a mean surveillance period of 144 ± 82.2 months and a mean surveillance interval of 33.4 ± 16.6 months, a total of 3.2 ± 8.9 adenomas were found per patient. These were small (median 6.5 mm), and 96% exhibited only low-grade dysplasia. Six patients (9%) were diagnosed with CRC at a mean age of 61.5 ± 11.3 years, corresponding to an incidence rate of 14 cases/10,000 person-years. Patients with CRC were older at first colonoscopy than those without cancer (59 vs 46 years, = .03), and half of these cases were diagnosed at this first colonoscopy.
Among patients with a family history of CRC in both parents, cases of CRC were seen primarily in those who significantly delayed their first colonoscopy. Initiation of colonoscopy at age 40 should be recommended to individuals with CRC in both parents, consistent with recommendations for those with 1 first-degree relative with CRC.
一级亲属中有结直肠癌（CRC）家族史是公认的CRC危险因素。当个体的双亲均患有CRC时，其对风险的影响尚不确定，且尚无既定的监测指南。我们旨在明确双亲均有CRC家族史个体的监测措施及结果。
我们从遗传性胃肠道癌数据库中识别出双亲均有CRC家族史的先证者。对病历进行回顾性审查，以了解结肠镜监测模式以及腺瘤和CRC的发生率。
66例患者符合纳入标准。42例患者（64%）进行了基因检测，未发现致病的种系突变。在平均144±82.2个月的监测期和平均33.4±16.6个月的监测间隔期间，每位患者共发现3.2±8.9个腺瘤。这些腺瘤较小（中位数为6.5毫米），96%仅表现为低级别发育异常。6例患者（9%）被诊断为CRC，平均年龄为61.5±11.3岁，发病率为14例/10000人年。患CRC的患者首次结肠镜检查时的年龄比未患癌患者大（59岁对46岁，P = 0.03），其中一半的病例在首次结肠镜检查时被诊断出来。
在双亲均有CRC家族史的患者中，CRC病例主要见于那些首次结肠镜检查明显延迟的患者。对于双亲均患有CRC的个体，应建议在40岁时开始进行结肠镜检查，这与对有一位一级亲属患CRC的个体的建议一致。
