title: Genetic analysis of TP53 in childhood myelodysplastic syndrome and juvenile myelomonocytic leukemia.
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.
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Asahi, Matsumoto, Japan.
authors.forename: Shoji
authors.initials: S
authors.lastname: Saito
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Matsuda
authors.forename: Chiaki
authors.initials: C
authors.lastname: Taira
authors.forename: Kenji
authors.initials: K
authors.lastname: Sano
authors.forename: Miyuki
authors.initials: M
authors.lastname: Tanaka-Yanagisawa
authors.forename: Ryu
authors.initials: R
authors.lastname: Yanagisawa
authors.forename: Yozo
authors.initials: Y
authors.lastname: Nakazawa
authors.forename: Kazuo
authors.initials: K
authors.lastname: Sakashita
authors.forename: Masaaki
authors.initials: M
authors.lastname: Shiohara
authors.forename: Kenichi
authors.initials: K
authors.lastname: Koike
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001483:Base Sequence; D002478:Cells, Cultured; D059248:Chemoradiotherapy; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17; D002895:Chromosomes, Human, Pair 5; D020732:Cytogenetic Analysis; D004252:DNA Mutational Analysis; D019008:Drug Resistance, Neoplasm / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D016158:Genes, p53 / Q000235:genetics*; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D054429:Leukemia, Myelomonocytic, Juvenile / Q000235:genetics* / Q000628:therapy; D008297:Male; D009190:Myelodysplastic Syndromes / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics; D011836:Radiation Tolerance / Q000235:genetics
chemical_list: C497422:KMT2A protein, human; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase