Abstract
Among 9 children with myelodysplastic syndrome (MDS) and 18 children with juvenile myelomonocytic leukemia, one MDS patient with der(5;17)(p10;q10) exhibited deletion of the TP53 gene in one allele and mutation (410 T>A) in the other allele in myeloid and erythroid cells. Since the mutation was not detected in peripheral blood leukocytes 9 months before the diagnosis, biallelic somatic inactivation of the TP53 gene might play an important role in the occurrence of MDS. His poor outcome might be associated with resistance to chemotherapy/radiation of a minor clone with both TP53 gene alteration and MLL duplication that already existed at onset.
Copyright © 2011 Elsevier Ltd. All rights reserved.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Age of Onset
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Base Sequence
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Cells, Cultured
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Chemoradiotherapy
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Child
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Child, Preschool
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Chromosome Aberrations
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Chromosomes, Human, Pair 17
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Chromosomes, Human, Pair 5
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Cytogenetic Analysis
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DNA Mutational Analysis
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Drug Resistance, Neoplasm / genetics
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Female
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Gene Deletion
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Genes, p53 / genetics*
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Histone-Lysine N-Methyltransferase
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Humans
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Infant
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Infant, Newborn
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Leukemia, Myelomonocytic, Juvenile / genetics*
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Leukemia, Myelomonocytic, Juvenile / therapy
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Male
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Myelodysplastic Syndromes / epidemiology
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Myelodysplastic Syndromes / genetics*
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Myelodysplastic Syndromes / therapy
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Myeloid-Lymphoid Leukemia Protein / genetics
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Radiation Tolerance / genetics
Substances
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KMT2A protein, human
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Myeloid-Lymphoid Leukemia Protein
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Histone-Lysine N-Methyltransferase