Satgé D, Sasco A J, Pujol H, Rethoré M O
Laboratoire d'Anatomie pathologique, Centre hospitalier, 19000 Tulle.
Bull Acad Natl Med. 2001;185(7):1239-52; discussion 1252-4.
The population with Down's syndrome has a different cancer profile compared to the general population, even after taking into account issues of survival and ageing. Several solid tumours are unusually rare, whereas in contrast leukaemias are increased. In addition, few studies are available on this topic. We therefore decided to conduct a mortality study based on the INSERM national mortality statistics in France comparing over a 24 year period deaths from female breast cancer in the general French population with the cancer deaths in women with Down's syndrome. Only 5 deaths with Down's syndrome could be found compared to 68.98 expected based on national statistics. This clear reduction in risk agrees with other studies available in Down's syndrome patients. This observation could be partly explained by over expression of genes linked to gene dosage effects on chromosome 21, playing a role in cell growth, differentiation, survival and death. An additional protective effect could come from the marked and continued decreased exposure to oestrogens, starting in utero for women with trisomy 21 and lasting all over life.
即便考虑到生存和衰老问题，唐氏综合征患者群体的癌症谱与普通人群仍有所不同。几种实体瘤异常罕见，而白血病的发病率则有所上升。此外，关于这一主题的研究很少。因此，我们决定基于法国国家卫生与医学研究所（INSERM）的全国死亡率统计数据开展一项死亡率研究，比较在24年期间法国普通人群中女性乳腺癌的死亡情况与唐氏综合征女性患者的癌症死亡情况。根据国家统计数据，预期有68.98例死亡，而实际仅发现5例唐氏综合征患者死亡。这种明显的风险降低与唐氏综合征患者的其他现有研究结果一致。这一观察结果部分可以通过与21号染色体上基因剂量效应相关的基因过度表达来解释，这些基因在细胞生长、分化、存活和死亡中发挥作用。另一种保护作用可能来自于雌激素暴露的显著且持续减少，对于21三体女性来说，这种减少从子宫内就开始了，并贯穿一生。
