FAMILIAL MALIGNANT-MELANOMA OF THE UVEA AND P53 - A VICTORIAN DETECTIVE-STORY

被引：37

作者：

JAY, M

MCCARTNEY, ACE

机构：

[1] INST OPHTHALMOL,DEPT CLIN OPHTHALMOL,LONDON WC1H 9QS,ENGLAND

[2] INST OPHTHALMOL,DEPT PATHOL,LONDON WC1H 9QS,ENGLAND

来源：

SURVEY OF OPHTHALMOLOGY | 1993年 / 37卷 / 06期

关键词：

BREAST CANCER; CHOROID; LI-FRAUMENI SYNDROME; HEREDITY; MALIGNANT MELANOMA; P53; UVEA;

D O I：

10.1016/0039-6257(93)90142-T

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

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.

引用

页码：457 / 462

页数：6

共 20 条

[1] B-K MOLE SYNDROME - CUTANEOUS AND OCULAR MALIGNANT-MELANOMA [J].