家族性腺瘤性息肉病患者的结直肠癌：基于丹麦息肉登记处的分析。

Colorectal Cancer in Individuals With Familial Adenomatous Polyposis, Based on Analysis of the Danish Polyposis Registry.

机构信息

Danish Polyposis Registry, Gastro Unit, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark.

出版信息

Clin Gastroenterol Hepatol. 2019 Oct;17(11):2294-2300.e1. doi: 10.1016/j.cgh.2019.02.008. Epub 2019 Feb 8.

DOI:10.1016/j.cgh.2019.02.008

Abstract

BACKGROUND & AIMS: Familial adenomatous polyposis (FAP) is an autosomal dominant disorder that increases risk for colorectal cancer (CRC). We assessed changes in the incidence and prevalence of CRC, and survival times, of patients with FAP participating in the Danish follow-up study.

METHODS

We collected data from the Danish Polyposis Registry, a nationwide, complete registry of patients with FAP that includes clinical information, surgical procedures, follow-up findings, and pathology reports. We compared data between the periods of 1990-1999 and 2000-2017. In 2017, the registry contained 226 families with 721 individuals with FAP. Probands were defined as patients diagnosed based on bowel symptoms, without any knowledge of hereditary bowel disease. Call-up patients were defined as those found to have FAP during screening and due to a diagnosis of FAP in first-degree relatives.

RESULTS

Although the mean incidence rate of FAP was stable from 1990-1999 (0.19/100,000/year) to 2000-2017 (0.32/100,000/year) (P = .91), the point prevalence increased from 4.86/100,000 in 1999 to 6.11/100,000 by the end of 2017 (P = .005). During 2000-2017, 25 of 72,218 CRC cases were associated with FAP (0.03%)-this was a significant decrease from 1990-1999 (26/30,005 cases; 0.09%) (P = .001). The risk of CRC was significantly higher for probands (n = 191; 61.6%) than call-up cases (n = 5; 1.9%) (P < .001). All CRCs in call-up patients were detected at the diagnosis of FAP (no cases were identified in the follow-up program). The median life expectancy for call-up patients was 72.0 years (95% CI, 63.3-80.7), compared to 55.0 years for probands (95% CI, 51.2-58.8) (P < .001). Therefore, the tracing and follow-up program increased life expectancy by 17.0 years for first-degree family members.

CONCLUSION

The Danish Polyposis Registry enables close monitoring of patients with FAP, reducing risk of CRC and prolonging life.

摘要

背景与目的

家族性腺瘤性息肉病（FAP）是一种常染色体显性遗传疾病，会增加结直肠癌（CRC）的发病风险。我们评估了参加丹麦随访研究的 FAP 患者的 CRC 发病率和患病率变化以及生存时间。

方法

我们从丹麦息肉登记处收集数据，该登记处是一个全国性的、完整的 FAP 患者登记处，包含临床信息、手术程序、随访结果和病理报告。我们比较了 1990-1999 年和 2000-2017 年两个时期的数据。2017 年，该登记处包含 226 个家族的 721 名 FAP 患者。先证者定义为基于肠道症状诊断的患者，无遗传性肠道疾病的任何知识。召集患者定义为在筛查期间发现患有 FAP 并因一级亲属中 FAP 的诊断而召集的患者。

结果

尽管 1990-1999 年（0.19/100,000/年）至 2000-2017 年（0.32/100,000/年）的 FAP 平均发病率稳定（P=.91），但 1999 年的点患病率从 4.86/100,000 增加到 2017 年底的 6.11/100,000（P=.005）。在 2000-2017 年期间，72188 例 CRC 病例中有 25 例与 FAP 相关（0.03%），与 1990-1999 年（26/30005 例；0.09%）相比显著减少（P=.001）。先证者（n=191；61.6%）的 CRC 风险明显高于召集病例（n=5；1.9%）（P<.001）。召集患者的所有 CRC 均在 FAP 诊断时检出（在随访计划中未检出病例）。召集患者的中位预期寿命为 72.0 岁（95%CI，63.3-80.7），而先证者为 55.0 岁（95%CI，51.2-58.8）（P<.001）。因此，追踪和随访计划使一级亲属的预期寿命延长了 17.0 年。