King P, Craft A W, Malcolm A J
University Department of Pathology, Royal Victoria Infirmary, Newcastle upon Tyne.
J Clin Pathol. 1993 Jul;46(7):676-7. doi: 10.1136/jcp.46.7.676.
The Li-Fraumeni cancer syndrome is a rare autosomal dominant syndrome, characterised by the occurrence of diverse mesenchymal and epithelial neoplasms at multiple sites. It has recently been shown that some of these individuals have a germ line mutation of the p53 tumour suppressor gene. The case of one member of such a family who has now developed three separate primary malignant tumours is reported. All three tumours expressed mutant p53 protein.
李-弗劳梅尼癌症综合征是一种罕见的常染色体显性综合征,其特征是在多个部位发生多种间叶组织和上皮性肿瘤。最近研究表明,这些个体中的一些人存在p53肿瘤抑制基因的种系突变。本文报道了这样一个家族中的一名成员,该成员现已发生三种独立的原发性恶性肿瘤。所有三种肿瘤均表达突变型p53蛋白。