PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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, P = .03), and half of these cases were diagnosed at this first colonoscopy.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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, P = .03), and half of these cases were diagnosed at this first colonoscopy.
UNASSIGNED: 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.
摘要：
■一级亲属的结直肠癌（CRC）家族史是CRC的公认风险因素。当个人有两个患有CRC的父母时，对风险的影响是不确定的，也没有既定的监测指南。我们试图确定父母双方都有CRC家族史的个体的监测实践和结果。
■我们从遗传性胃肠道癌症数据库中确定了父母双方均有CRC家族史的先证者。回顾性分析了结肠镜检查的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名患者(64%)接受了基因检测,没有发现致病性种系突变。平均监测期为144±82.2个月，平均监测间隔为33.4±16.6个月，每个患者共发现3.2±8.9个腺瘤.这些都是小的（中位数6.5毫米），96%仅表现为低度发育不良。6例患者（9%）诊断为CRC，平均年龄为61.5±11.3岁，对应于14例/10,000人年的发病率。CRC患者在第一次结肠镜检查时比没有癌症的患者年龄大（59岁vs46岁，P=.03)，这些病例中有一半是在第一次结肠镜检查时诊断的。
■在父母双方均有CRC家族史的患者中，CRC病例主要见于首次结肠镜检查明显延迟的患者.40岁时开始结肠镜检查应推荐给父母双方患有CRC的个体。与CRC一级亲属的建议一致。
■我们从遗传性胃肠道癌症数据库中确定了父母双方均有CRC家族史的先证者。回顾性分析了结肠镜检查的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名患者(64%)接受了基因检测,没有发现致病性种系突变。平均监测期为144±82.2个月，平均监测间隔为33.4±16.6个月，每个患者共发现3.2±8.9个腺瘤.这些都是小的（中位数6.5毫米），96%仅表现为低度发育不良。6例患者（9%）诊断为CRC，平均年龄为61.5±11.3岁，对应于14例/10,000人年的发病率。CRC患者在第一次结肠镜检查时比没有癌症的患者年龄大（59岁vs46岁，P=.03)，这些病例中有一半是在第一次结肠镜检查时诊断的。
■在父母双方均有CRC家族史的患者中，CRC病例主要见于首次结肠镜检查明显延迟的患者.40岁时开始结肠镜检查应推荐给父母双方患有CRC的个体。与CRC一级亲属的建议一致。
