Background: Individuals with Down syndrome are thought to have a unique tumor profile. Methods: Using the IQVIA Disease Analyzer database, patients aged ≥18 years diagnosed with Down syndrome in German general practices between 2005 and 2021 were compared with patients without Down syndrome for cancer incidence, adjusting for age, sex, average annual visit frequency, and comorbidity. The 5-year cumulative incidence of cancer overall and specific cancers was analyzed using Kaplan–Meier curves and compared using the log-rank test. In addition, univariable Cox regression analysis was performed. Results: A total of 2438 patients with Down syndrome and 12,190 patients without Down syndrome were included; 3.9% of patients without Down syndrome and 3.1% of patients with Down syndrome were diagnosed with cancer (p= 0.143). Regression analysis showed no significant association between Down syndrome and subsequent cancer in the total population (HR: 0.79; 95% CI: 0.57–1.09), in women (HR: 0.89; 95% CI: 0.56–1.37), or in men (HR: 0.69; 95% CI: 0.43–1.11). Analyses by cancer type and sex showed a strong but not significant negative association between Down syndrome and breast cancer in women (HR: 0.33; 95% CI: 0.12–0.93). Conclusions: Our results could form the basis for future studies to clarify whether and to what extent an adapted screening program needs to be modified for individuals with Down syndrome due to the particular cancer distribution pattern.
背景：唐氏综合征患者被认为具有独特的肿瘤分布特征。方法：基于IQVIA疾病分析数据库，本研究对2005年至2021年间德国全科诊所诊断为唐氏综合征的18岁及以上患者与非唐氏综合征患者进行癌症发病率比较，并对年龄、性别、年均就诊频率及合并症进行校正。通过Kaplan-Meier曲线分析总体癌症及特定癌症的5年累积发病率，并采用对数秩检验进行比较。此外，研究还进行了单变量Cox回归分析。结果：共纳入2438例唐氏综合征患者及12190例非唐氏综合征患者；非唐氏综合征组与唐氏综合征组确诊癌症的比例分别为3.9%和3.1%（p=0.143）。回归分析显示，在总体人群（HR：0.79；95% CI：0.57-1.09）、女性（HR：0.89；95% CI：0.56-1.37）及男性（HR：0.69；95% CI：0.43-1.11）中，唐氏综合征与后续癌症发生均无显著关联。按癌症类型与性别分层分析显示，女性唐氏综合征与乳腺癌存在较强但未达显著水平的负相关（HR：0.33；95% CI：0.12-0.93）。结论：本研究结果可为未来研究奠定基础，以明确针对唐氏综合征患者特殊的癌症分布模式，是否需要以及如何调整现有筛查方案。
Cancer Risk in Patients with Down Syndrome—A Retrospective Cohort Study from Germany
肿瘤(癌症)患者之家