视网膜母细胞瘤基因的多效性作用。
Pleiotropic effects of the gene for retinoblastoma.
作者信息
Kitchin F D, Ellsworth R M
出版信息
J Med Genet. 1974 Sep;11(3):244-6. doi: 10.1136/jmg.11.3.244.
Abstract
Vigorous treatment of retinoblastoma in the last 30 years has resulted in a large population of survivors with useful vision, in which the late effects of genetically associated tumours can be seen. An increase in second primary tumours, mainly osteogenic sarcoma, has been found in those children who carry the germinal mutations, and not in the majority of survivors of unilateral disease. The findings indicate a pleiotropic effect of the retinoblastoma gene which may act as an initiator in two forms of neoplasia.
摘要
在过去30年里，对视网膜母细胞瘤的积极治疗已产生了大量拥有有用视力的幸存者，在这些幸存者中可以看到与基因相关肿瘤的晚期效应。在携带胚系突变的儿童中发现了第二原发性肿瘤（主要是骨肉瘤）的增加，而在单侧疾病的大多数幸存者中未发现这种情况。这些发现表明视网膜母细胞瘤基因具有多效性作用，它可能在两种肿瘤形成形式中充当启动子。
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