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偶然的癌症遗传学家:希拉里奥·德·古韦亚与遗传性视网膜母细胞瘤

The accidental cancer geneticist: hilário de gouvêa and hereditary retinoblastoma.

作者信息

Monteiro Alvaro N A, Waizbort Ricardo

机构信息

Risk Assessment, Detection, and Intervention Program, H. Lee Moffitt Cancer Center & Research Institute, Tampa, Florida, USA.

出版信息

Cancer Biol Ther. 2007 May;6(5):811-3. doi: 10.4161/cbt.6.5.4420. Epub 2007 May 10.

Abstract

In 1872 a Brazilian ophthalmologist performed an enucleation in a young boy with retinoblastoma. This boy survived and married a woman without any family history of cancer. The couple had two daughters with bilateral retinoblastoma also seen by the same ophthalmologist, Hilário de Gouvêa. This case became the first documented report of a family with retinoblastoma in more than one generation. Here we examine the life of de Gouvêa and his contribution which raised the possibility that cancer had a genetic basis. We discuss how de Gouvêa's mind had been prepared to realize the importance of this observation. We attempt to define the conditions that allowed not only his discovery, but also the report of the findings and a dogged pursuit for credit over many years in a country which had virtually no research tradition and was still grappling with its recent colonial history.

摘要

1872年,一位巴西眼科医生为一名患有视网膜母细胞瘤的小男孩实施了眼球摘除术。这个男孩活了下来,并娶了一位没有任何癌症家族病史的女子。这对夫妇育有两个女儿,她们也患有双侧视网膜母细胞瘤,同样由这位眼科医生希拉里奥·德·古韦亚诊治。该病例成为有文献记载的第一代以上家族性视网膜母细胞瘤的首个报告。在此,我们审视德·古韦亚的生平及其贡献,正是他的贡献让癌症具有遗传基础这一可能性浮出水面。我们探讨德·古韦亚是如何做好思想准备去认识到这一观察结果的重要性的。我们试图明确那些条件,正是这些条件不仅促成了他的发现,还使得研究结果得以报告,并在一个几乎没有研究传统且仍在应对其近代殖民历史的国家里,让他多年来坚持不懈地争取认可。

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