Jay M, McCartney A C
Department of Clinical Ophthalmology, Institute of Ophthalmology, London, England.
Surv Ophthalmol. 1993 May-Jun;37(6):457-62. doi: 10.1016/0039-6257(93)90142-t.
In 1905, Parsons first described a family with a history of four generations with uveal melanoma associated with breast cancer. The family history has now been brought up to date using genealogical sources to determine the origin of this family which was traced to the East End of London in the early 19th century. In addition, immunohistochemical investigations have showed mutant p53, a tumor suppressor gene, in museum specimens of uveal melanoma after 150 years. This family probably represents the earliest example of the Li-Fraumeni syndrome on record.
1905年,帕森斯首次描述了一个有四代人病史的家族,该家族患有与乳腺癌相关的葡萄膜黑色素瘤。现在已利用系谱资料更新了家族病史,以确定这个家族的起源,该家族可追溯到19世纪初伦敦东区。此外,免疫组织化学研究显示,在保存了150年的葡萄膜黑色素瘤博物馆标本中存在肿瘤抑制基因p53的突变。这个家族可能是有记录以来李-弗劳梅尼综合征的最早例子。