Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.

C A Felix; M M Nau; T Takahashi; T Mitsudomi; I Chiba; D G Poplack; G H Reaman; D E Cole; J J Letterio; J Whang-Peng

doi:10.1172/JCI115630

Pediatric Branche, National Cancer Institute, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892.

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Published in Volume 89, Issue 2 on February 1, 1992
J Clin Invest. 1992;89(2):640–647. https://doi.org/10.1172/JCI115630.
© 1992 The American Society for Clinical Investigation

Published February 1, 1992 - Version history

The p53 gene was examined in primary lymphoblasts of 25 pediatric patients with acute lymphoblastic leukemia by the RNase protection assay and by single strand conformation polymorphism analysis in 23 of 25 cases. p53 mutations were found to occur, but at a low frequency (4 of 25). While all four mutations were identified by single strand conformation polymorphism, the comparative sensitivity of RNase protection was 50% (2 of 4). Heterozygosity was retained at mutated codons in 3 of 4 cases. One pedigree was consistent with the Li-Fraumeni syndrome, and bone marrow from both diagnosis and remission indicated a germline G to T transversion at codon 272 (valine to leucine). Although members of another family were affected with leukemia, a 2-bp deletion in exon 6 was nonhereditary. The other two nonhereditary p53 mutations included a T to G transversion at codon 270 (phenylalanine to cysteine) and a G to C transversion at codon 248 (arginine to proline). These data support the role of both hereditary and acquired p53 mutations in the pathogenesis and/or progression of some cases of childhood acute lymphoblastic leukemia.

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Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.

C A Felix, M M Nau, T Takahashi, T Mitsudomi, I Chiba, D G Poplack, G H Reaman, D E Cole, J J Letterio, and J Whang-Peng

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Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.

C A Felix, M M Nau, T Takahashi, T Mitsudomi, I Chiba, D G Poplack, G H Reaman, D E Cole, J J Letterio, and J Whang-Peng

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