Acute myeloid leukemia with t(16;21)(q24;q22) and eosinophilia: case report and review of the literature.
The t(16;21)(q24;q22), a rare chromosomal translocation involving chromosome 21 in de novo and therapy-related acute myeloid leukemia (AML), produces a RUNX1-CBFA2T3 fusion gene (previously AML1-MTG16) fusion gene. The translocation has been reported in 20 patients with AML, with eosinophilia present in 3 cases. Here we report a pediatric case of t(16;21)(q24;q22) in de novo AML with eosinophilia and suggest that eosinophilia is a hematologic characteristic of at least a subpopulation of AML with t(16;21)(q24;q22). A 4-year-old Korean girl was admitted with complaints of pale appearance and dizziness, and was diagnosed with acute myelomonocytic leukemia. On admission, laboratory evaluation revealed hemoglobin at 3.3 g/dL, platelets at 9.0 x 10(9)/L, and white blood cells at 9.1 x 10(9)/L with 10% eosinophils and 1% blasts. The bone marrow aspirate contained 31% blasts and 11% eosinophils. Flow cytometric analysis revealed the expression of CD13, CD14, CD19, CD33, CD34, and HLA-DR by the leukemic blasts. The karyotype was 47,XX, + 8,t(16;21)(q24;q22)[18]/46,XX[2]. Interphase fluorescence in situ hybridization analysis with a dual-color, dual-fusion translocation LSI AML1/ETO probe set for RUNX1 and RUNX1T1 produced three signals for each probe in 90% of interphases, but no fusion signals. We confirmed the presence of RUNX1-CBFA2T3 fusion transcripts with reverse transcriptase-polymerase chain reaction, using primers AML1ex5f1 and MTG16r2.
Park
Il Joong
IJ
Department of Laboratory Medicine, Ajou University School of Medicine, San 5 Wonchun-dong, Yeongtong-gu, Suwon 443-721, Republic of Korea.
Park
Jun Eun
JE
Kim
Hyon Joo
HJ
Jung
Hyun Joo
HJ
Lee
Wee Gyo
WG
Cho
Sung Ran
SR
D002675:Child, Preschool; D002885:Chromosomes, Human, Pair 16; D002891:Chromosomes, Human, Pair 21; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic