title: A complex variant t(8;21) involving chromosome 3 in a child with acute myeloblastic leukemia with eosinophilia (AML M4Eo).
abstract: Although the classic t(8;21) has been reported in 10 pediatric patients with acute myeloid leukemia with eosinophilia (AML M4Eo), no complex variant t(8;21) in children with AML M4Eo has been previously described. In our analysis of leukemic blasts from a 4-year-old boy with AML M4Eo, conventional cytogenetics revealed that 95% of the cells had a hypodiploid line containing 45 chromosomes and a complex karyotype involving chromosomes 3, 8, and 21. Fluorescence in situ hybridization using whole chromosome painting probes for these chromosomes confirmed the cytogenetic findings. The presence of a CBFA2-ETO fusion gene was established by fluorescence in situ hybridization and reverse-transcriptase polymerase chain reaction analysis. Thus, this report illustrates the first description of a complex variant t(8;21) involving chromosome band 3q27 in a child with AML M4Eo.
authors.affiliation: Department of Pathology, St. Jude Children's Research Hospital, 332 North Lauderdale, Memphis, TN 38105-2794, USA. susan.mathew@stjude.org
authors.forename: Susan
authors.initials: S
authors.lastname: Mathew
authors.forename: Sheila
authors.initials: S
authors.lastname: Shurtleff
authors.forename: Raul C
authors.initials: RC
authors.lastname: Ribeiro
authors.forename: Fred G
authors.initials: FG
authors.lastname: Behm
authors.forename: Susana C
authors.initials: SC
authors.lastname: Raimondi
mesh_terms: D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21; D002893:Chromosomes, Human, Pair 3; D002898:Chromosomes, Human, Pair 8; D050676:Core Binding Factor Alpha 2 Subunit; D020732:Cytogenetic Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D018572:Disease-Free Survival; D004802:Eosinophilia; D014644:Genetic Variation; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D008297:Male; D011518:Proto-Oncogene Proteins; D000075142:RUNX1 Translocation Partner 1 Protein; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; D000075142:RUNX1 Translocation Partner 1 Protein; C493728:RUNX1 protein, human; C082222:RUNX1T1 protein, human; D014157:Transcription Factors