[AML1 gene rearrangements, but no 8;21 translocation in a child with acute myeloblastic leukemia (M2)].
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.
Oka
T
T
Department of Pediatrics, Asahikawa Medical College.
Suzuki
Y
Y
Shimizu
S
S
Sakata
Y
Y
Azuma
H
H
Kaneko
Y
Y
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