title: [AML1 gene rearrangements, but no 8;21 translocation in a child with acute myeloblastic leukemia (M2)].
abstract: A 3-year-old girl developed fever and bilateral exophthalmos. Her initial peripheral blood counts on admission were; Hb8.7 g/dl, Plt. 10.6 x 10(4)/microliters, and WBC 30,890/microliters with 31% peroxidase-positive blasts, some of which contained Auer rods. The bone marrow smears showed 22% blasts with a certain degree of maturation. She was diagnosed as having M2 type AML. Computed tomography revealed bilateral retoro-orbital tumor. The bone marrow karyotype showed no 8;21 translocation but a loss of one sex chromosome. Molecular analysis of the bone marrow cells disclosed rearrangements of the AML1 gene. Chimeric mRNA coded by the AML1-MTG8 gene was also detected by the RT-PCR method. We concluded that this patient had a masked 8;21 translocation in her leukemic cells.
authors.affiliation: Department of Pediatrics, Asahikawa Medical College.
authors.forename: T
authors.initials: T
authors.lastname: Oka
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: S
authors.initials: S
authors.lastname: Shimizu
authors.forename: Y
authors.initials: Y
authors.lastname: Sakata
authors.forename: H
authors.initials: H
authors.lastname: Azuma
authors.forename: Y
authors.initials: Y
authors.lastname: Kaneko
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014178:Translocation, Genetic; D014960:X Chromosome