Document Detail

Acute myeloid leukemia with t(16;21)(q24;q22) and eosinophilia: case report and review of the literature.
MedLine Citation:
PMID:  19963144     Owner:  NLM     Status:  MEDLINE    
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.
Il Joong Park; Jun Eun Park; Hyon Joo Kim; Hyun Joo Jung; Wee Gyo Lee; Sung Ran Cho
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Cancer genetics and cytogenetics     Volume:  196     ISSN:  1873-4456     ISO Abbreviation:  Cancer Genet. Cytogenet.     Publication Date:  2010 Jan 
Date Detail:
Created Date:  2009-12-07     Completed Date:  2009-12-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909240     Medline TA:  Cancer Genet Cytogenet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  105-8     Citation Subset:  IM    
Department of Laboratory Medicine, Ajou University School of Medicine, San 5 Wonchun-dong, Yeongtong-gu, Suwon 443-721, Republic of Korea.
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MeSH Terms
Child, Preschool
Chromosomes, Human, Pair 16*
Chromosomes, Human, Pair 21*
In Situ Hybridization, Fluorescence
Leukemia, Myeloid, Acute
Reverse Transcriptase Polymerase Chain Reaction
Translocation, Genetic*

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