Mortality and cancer incidence among individuals with Down syndrome
Mortality and cancer incidence among individuals with Down syndrome
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DOI：
10.1001/archinte.163.6.705
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发表时间：
2003-03-24
影响因子：
--
通讯作者：
Fraumeni, JF
中科院分区：
文献类型：
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作者：
Hill, DA;Gridley, G;Fraumeni, JF
背景：唐氏综合征(DS)患者易患白血病和其他癌症，并因其他疾病超额死亡，但与特定癌症或死因相关的风险大小的信息很少。方法：在瑞典(1965-1993)或丹麦(1977-1989)，通过与国家癌症和生命统计登记联系，对4872名出院诊断为DS的患者的死亡经历和癌症发病率进行了评估。结果：DS患者发生急性淋巴细胞白血病(SIR，24.2；95%可信区间[CI]，15.2-36.6；n=22)和急性非淋巴细胞白血病(SIR，28.2；95%CI 15.7-48.3；n=14)的风险增加。患睾丸癌(SIR，3.7；95%CI，1.0~9.4；n=4)和肝癌(SIR，6.0；95%CI 1.2~17.5；n=3)的风险也增加。患有DS的个体也经历了因胃癌(SMR，6.4；95%CI 1.7-16.4；n=4)、痴呆和阿尔茨海默病(SMR，54.1；95%CI 27.9-94.4)、癫痫(SMR，30.4；95%CI 13.9-57.7)、缺血性心脏病(SMR，3.9；95%CI 2.7-5.4)、其他心脏病(SMR，16.5；95%CI 11.0-3.7)、脑血管疾病(SMR，6.0；感染性疾病(SMR，12.0；95%可信区间6.0~21.4)和先天畸形(SMR，25.8；95%可信区间21.0~31.4)。结论：DS患者因特定原因死亡的风险显著增加，除白血病外，还可能发生其他癌症。这些结果提供了关于21号染色体基因参与使DS复杂化的疾病的线索，并对疾病检测和受影响个体的护理很重要。
Background: Individuals with Down syndrome (DS) have a predisposition to leukemia and possibly other cancers and excess mortality from other conditions, but information on the magnitude of risk associated with specific cancers or causes of death is sparse.Methods: Mortality experience and cancer incidence were evaluated in a combined cohort of 4872 individuals with a hospital discharge diagnosis of DS in Sweden (1965-1993) or Denmark (1977-1989) by linkage to national cancer and vital statistics registries. Standardized incidence ratios (SIRs) and standardized mortality ratios (SMRs) were estimated by comparison with age, sex, and calendar-year expected values.Results: Individuals with DS had an increased risk of incident acute lymphocytic (SIR, 24.2; 95% confidence interval [CI], 15.2-36.6; n=22) and acute nonlymphocytic (SIR, 28.2; 95% CI 15.7-48.3; n = 14) leukemias. Risks f testicular cancer (SIR, 3.7; 95% CI, 1.0-9.4; n=4) and liver cancer (SIR, 6.0; 95% CI 1.2-17.5; n=3) were also elevated. individuals with DS also experienced elevated mortality attributed to stomach cancer (SMR, 6.4; 95% CI 1.7-16.4; n=4), dementia and Alzheimer disease (SMR, 54.1; 95% CI 27.9-94.4), epilepsy (SMR, 30.4; 95% CI 13.9-57.7), ischemic heart disease (SMR, 3.9; 95% CI 2.7-5.4), other heart disease (SMR, 16.5; 95% CI 11.0-3.7), cerebrovascular disease (SMR, 6.0; 95% CI 3.5-.6); infectious diseases (SMR, 12.0; 95% 6.0-21.4), and congenital anomalies (SMR, 25.8; 95% CI 21.0-31.4).Conclusions: Individuals with DS have a substantially increased risk of mortality due to specific causes and may have an elevated risk of other incident cancers in addition to leukemia. These results provide clues regarding chromosome 21 gene involvement in diseases that complicate DS and are important for disease detection and care of affected individuals.