کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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2110995 | 1083955 | 2010 | 4 صفحه PDF | دانلود رایگان |
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 × 109/L, and white blood cells at 9.1 × 109/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.
Journal: Cancer Genetics and Cytogenetics - Volume 196, Issue 1, 1 January 2010, Pages 105–108