Germline p53 mutation presenting as synchronous tumors.
Li-Fraumeni syndrome and the LF-like syndrome, rare heritable conditions that predispose to the development of malignancy, are associated with germline mutations of the tumor suppressor gene p53. The authors describe a 14-month-old boy who presented with synchronous rhabdomyosarcoma and adrenal cortical carcinoma and a novel mutation of the p53 gene. Analysis of exons 2 through 11 of the p53 gene using the polymerase chain reaction and DNA sequencing revealed a mutation of codon 273. Although codon 273 is a known hotspot region for p53 mutation, the patient's mutation, R273H, has not been associated with development of adrenal cortical carcinoma.
Cavalier
Mary Ellen
ME
Indiana University School of Medicine, Division of Pediatric Hematology/Oncology, Indianapolis, IN 46202, USA. mecavali@iupui.edu
Davis
Mary M
MM
Croop
James M
JM
D000306:Adrenal Cortex Neoplasms / Q000235:genetics* / Q000473:pathology; D002277:Carcinoma / Q000235:genetics* / Q000473:pathology; D003062:Codon; D016158:Genes, p53; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D016864:Li-Fraumeni Syndrome / Q000150:complications* / Q000235:genetics; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000473:pathology; D012208:Rhabdomyosarcoma / Q000235:genetics* / Q000473:pathology; D012307:Risk Factors
D003062:Codon