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Identification of a novel p53 in‐frame deletion in a Li–Fraumeni‐like family
Author(s) -
Schiffman Joshua D.,
Chun Nicolette,
Fisher Paul G.,
Dahl Gary V.,
Ford James M.,
Eggerding Faye A.
Publication year - 2008
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21247
Subject(s) - li–fraumeni syndrome , exon , genetics , germline , medicine , frameshift mutation , gene , germline mutation , mutation , pilocytic astrocytoma , coding region , cancer research , glioblastoma , astrocytoma , biology
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). Pediatr Blood Cancer 2008;50:914–916. © 2007 Wiley‐Liss, Inc.