Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study
Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study
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DOI：
10.1017/s0003480001008569
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发表时间：
2001-03-01
影响因子：
1.9
通讯作者：
Youings, S
中科院分区：
文献类型：
--
作者：
Swerdlow, AJ;Hermon, C;Youings, S
1959 ~ 1990年，在英国的三个细胞遗传学中心，对1373例性染色体数目异常的患者进行了死亡率和癌症发病率的评估，并与全国的预期发病率进行了比较。400例Turner综合征患者随访，其中62例死亡，死亡相对危险度（RR）为4.16（95%可信区间（CI）3.22-5.39）。特纳综合征患者因神经、心血管、呼吸、消化和泌尿生殖系统疾病而死亡的风险大大增加。646例47，XXY体质的Klinefelter综合征患者中死亡163例，RR = 1.63（1.40-1.91）。糖尿病、心血管疾病、呼吸系统疾病和消化系统疾病的死亡率明显增高。X染色体多体性（RR = 2.11（1.43-3.02））和Y染色体多体性（RR = 1.90（1.20 ~ 2.85））患者的死亡率也显著增加，前者心血管疾病的死亡率显著增加，后者呼吸系统疾病的死亡率显著增加。队列中唯一显著增加的癌症发病率或死亡率风险是47，XXY体质的Klinefelter综合征患者的肺癌和乳腺癌，以及具有三条以上性染色体的男性的非霍奇金淋巴瘤。
Mortality and cancer incidence were assessed in a cohort of 1373 patients with numerical sex chromosome abnormalities diagnosed at three cytogenetics centres in Britain during 1959-90, and were compared with expectations from national rates. four hundred patients with Turner's syndrome were followed , of whom 62 died, with a relative risk (RR) of death of 4.16 (95% confidence interval (CI) 3.22-5.39). Turner's syndrome patients had greatly raised risks of death from diseases of the nervous, cardiovascular, respiratory, digestive and genitourinary systems. One hundred and sixty three deaths occurred among 646 patients with Klinefelter's syndrome with a 47,XXY constitution, giving an RR of 1.63 (1.40-1.91). Mortality in these patients was significantly raised from diabetes amd diseases of the cardiovascular, respiratory and digestive systems. These was also significantly increased mortality for patients with X polysomy (RR = 2.11 (1.43-3.02)) and Y polysomy (RR = 1.90 (1.20 2.85)), the former with significantly increased mortality from cardio-vascular disease and the latter form respiratory disease. The only significantly raised risks of cancer incidence or mortality in the cohort were for lung cancer and breast cancer in patients with Klinefelter's syndrome with a 47,XXY constitution, and non-Hodgkin's lymphoma in men with more than three sex chromosomes.