title: t(3;21)(q26;q22) with AML1 rearrangement in a de novo childhood acute monoblastic leukaemia.
abstract: t(3;21)(q26;q22) is a recurrent chromosomal abnormality in Philadelphia-positive chronic myeloid leukaemia in blast crisis and in treatment-related myelodysplastic syndrome and acute myeloid leukaemia. The molecular consequences of the t(3;21) are presently being unravelled; various transcripts between the AML1 gene in 21q22 and several unrelated genes, i.e. EAP, EVI1 and MDS1, in 3q26 are generated, resulting in the formation of a chimaeric transcription factor. The t(3;21) has only rarely been described in de novo leukaemias and never before in an acute leukaemia in a child. We here present the clinical, cytogenetic and molecular genetic findings in a boy with a de novo acute monoblastic leukaemia with t(3;21)(q26;q22) and AML1 rearrangement.
authors.affiliation: Department of Clinical Genetics, Lund University Hospital, Sweden.
authors.forename: B
authors.initials: B
authors.lastname: Johansson
authors.forename: T
authors.initials: T
authors.lastname: Fioretos
authors.forename: S
authors.initials: S
authors.lastname: Garwicz
authors.forename: S
authors.initials: S
authors.lastname: Heim
authors.forename: F
authors.initials: F
authors.lastname: Mitelman
mesh_terms: D015139:Blotting, Southern; D002648:Child; D002891:Chromosomes, Human, Pair 21; D002893:Chromosomes, Human, Pair 3; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; D015321:Gene Rearrangement; D006801:Humans; D007621:Karyotyping; D007948:Leukemia, Monocytic, Acute / Q000235:genetics*; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics*; D011518:Proto-Oncogene Proteins; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; C493728:RUNX1 protein, human; D014157:Transcription Factors