p53 expression in three separate tumours from a patient with Li-Fraumeni's syndrome.
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.
King
P
P
University Department of Pathology, Royal Victoria Infirmary, Newcastle upon Tyne.
Craft
A W
AW
Malcolm
A J
AJ
D000328:Adult; D001859:Bone Neoplasms / Q000378:metabolism / Q000473:pathology; D002813:Chondrosarcoma / Q000378:metabolism / Q000473:pathology; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000378:metabolism*; D008297:Male; D008545:Melanoma / Q000378:metabolism / Q000473:pathology; D009378:Neoplasms, Multiple Primary / Q000378:metabolism*; D012208:Rhabdomyosarcoma / Q000378:metabolism / Q000473:pathology; D012878:Skin Neoplasms / Q000378:metabolism / Q000473:pathology; D016159:Tumor Suppressor Protein p53 / Q000378:metabolism*
D016159:Tumor Suppressor Protein p53