title: Germline p53 mutation presenting as synchronous tumors.
abstract: 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.
authors.affiliation: Indiana University School of Medicine, Division of Pediatric Hematology/Oncology, Indianapolis, IN 46202, USA. mecavali@iupui.edu
authors.forename: Mary Ellen
authors.initials: ME
authors.lastname: Cavalier
authors.forename: Mary M
authors.initials: MM
authors.lastname: Davis
authors.forename: James M
authors.initials: JM
authors.lastname: Croop
mesh_terms: 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
chemical_list: D003062:Codon