Risks of leukaemia and solid tumours in individuals with Down's syndrome
Risks of leukaemia and solid tumours in individuals with Down's syndrome
复制标题
DOI：
10.1016/s0140-6736(99)05264-2
复制
发表时间：
2000-01-15
期刊：
影响因子：
168.9
通讯作者：
Mikkelsen, M
中科院分区：
文献类型：
--
作者：
Hasle, H;Clemmensen, IH;Mikkelsen, M
背景与唐氏综合征的个人有一个更大的风险比一般人群白血病，但缺乏可靠的估计年龄特异性风险和鲜为人知的风险的实体tumors.Methods我们确定了2814个人与唐氏综合征从丹麦细胞遗传学登记，并链接到丹麦癌症登记处的数据。处于风险中的人年数为48453。结果发现60例癌症病例，预期49.8例（SIR 1.20 [95%CI 0.92-1.55]）。白血病占所有恶性疾病病例的60%，占儿童病例的97%。白血病的SIR随年龄而变化，0-4岁为56（38-81），5-29岁为10（4-20）。29岁以后没有发现白血病病例。在0-4岁儿童中，急性髓系白血病的SIR是急性淋巴细胞白血病的3.8（1.7-8.4）倍。5岁时患白血病的累积风险为2.1%，30岁时为2.7%。仅观察到24例实体瘤，预期为47.8例（0.50 [0.32-0.75]）。未发现乳腺癌病例，预期为7.3例（p=0.0007）。睾丸癌、卵巢癌和视网膜母细胞瘤的发病率高于预期，但并不显著。Intrepretation唐氏综合征中癌症的发生是独特的，儿童白血病的风险很高，所有年龄组的实体瘤风险都降低。恶性疾病的独特模式可能为寻找21号染色体上的致白血病基因和肿瘤抑制基因提供线索。
Background Individuals with Down's syndrome have a greater risk for leukaemia than the general population, but reliable estimates of the age-specific risk are lacking and little is known about the risk of solid tumours.Methods We identified 2814 individuals with Down's syndrome from the Danish Cytogenetic Register, and linked the data to the Danish Cancer Registry. The number of person-years at risk was 48 453. Standardised incidence ratio (SIR) and 95% CI were calculated of the basis of cancer rates specific for age and sex in the general population.Findings 60 cases of cancer were found, with 49.8 expected (SIR 1.20 [95% CI 0.92-1.55]). Leukaemia constituted 60% of cases of malignant disease overall and 97% of cases in children. The SIR for leukaemia varied with age, being 56 (38-81) at age 0-4 years and 10 (4-20) at 5-29 years. No cases of leukaemia were seen after the age of 29 years. The SIR for acute myeloid leukaemia was 3.8 (1.7-8.4) times higher than that for acute lymphoblastic leukaemia in children aged 0-4 years. The cumulative risk for leukaemia by the age of 5 years was 2.1% and that by 30 years was 2.7%. Only 24 solid tumours were seen, with 47.8 expected (0.50 [0.32-0.75]). No cases of breast cancer were found, with 7.3 expected (p=0.0007). Higher than expected numbers of testicular cancers, ovarian cancers, and retinoblastomas were seen but were not significant.Intrepretation The occurrence of cancer in Down's syndrome is unique with a high risk of leukaemia in children and a decreased risk of solid tumours in all age-groups. The distinctive pattern of malignant diseases may provide clues in the search for leukaemogenic genes and tumour-suppressor genes on chromosome 21.