title: Identification of a novel p53 in-frame deletion in a Li-Fraumeni-like family.
abstract: We describe a 2-year-old female with a completely resected cerebral pilocytic astrocytoma who subsequently developed B-progenitor acute lymphoblastic leukemia (ALL). Her father and paternal uncle were previously diagnosed with glioblastoma multiforme. Sequence analysis of the patient's p53 gene revealed a novel germline three base-pair deletion (339_341delCTT) in exon 4, resulting in removal of an evolutionarily conserved phenylalanine amino acid residue at codon 113. The same mutation was found in the patient's two clinically unaffected siblings. The in-frame deletion we describe has not previously been reported and adds to our understanding of the biologic effects of p53 gene mutation in Li-Fraumeni syndrome (LFS).
authors.affiliation: Division of Pediatric Hematology/Oncology, Stanford University School of Medicine, Stanford, California 94304, USA. jschiffman@lpch.org
authors.forename: Joshua D
authors.initials: JD
authors.lastname: Schiffman
authors.forename: Nicolette
authors.initials: N
authors.lastname: Chun
authors.forename: Paul G
authors.initials: PG
authors.lastname: Fisher
authors.forename: Gary V
authors.initials: GV
authors.lastname: Dahl
authors.forename: James M
authors.initials: JM
authors.lastname: Ford
authors.forename: Faye A
authors.initials: FA
authors.lastname: Eggerding
mesh_terms: D001254:Astrocytoma / Q000235:genetics; D001483:Base Sequence; D001932:Brain Neoplasms / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D016159:Tumor Suppressor Protein p53