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  • Title: Identification of a novel p53 in-frame deletion in a Li-Fraumeni-like family.
    Author: Schiffman JD, Chun N, Fisher PG, Dahl GV, Ford JM, Eggerding FA.
    Journal: Pediatr Blood Cancer; 2008 Apr; 50(4):914-6. PubMed ID: 17554785.
    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).
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