Identification of a novel p53 in-frame deletion in a Li-Fraumeni-like family PEDIATRIC BLOOD & CANCER Schiffman, J. D., Chun, N., Fisher, P. G., Dahl, G. V., Ford, J. M., Eggerding, F. A. 2008; 50 (4): 914-916


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).

View details for DOI 10.1002/pbc.21247

View details for PubMedID 17554785