title: Insertions generating the 5'RUNX1/3'CBFA2T1 gene in acute myeloid leukemia cases show variable breakpoints.
abstract: Translocation t(8;21)(q22;q22) is a common karyotypic abnormality detected in about 15% of acute myeloid leukemia (AML) cases. The rearrangement results in fusion of the RUNX1 (also known as AML1) and CBFA2T1 (also known as ETO) genes, generating a 5'RUNX1/3'CBFA2T1 transcriptionally active fusion gene on derivative chromosome 8, but some cases with ins(21;8) and ins(8;21) have been observed. However, a detailed breakpoint characterization of the insertion events has never been reported. In the present article, we describe six insertion events among 82 (7.3%) AML cases characterized by the RUNX1/CBFA2T1 fusion. Using FISH experiments with appropriate bacterial artificial chromosome (BAC) and P1 artificial chromosome (PAC) probes, we were able to perform a detailed molecular cytogenetic characterization of one case with ins(8;21) and five with ins(21;8). Our analysis revealed that insertions generating the 5'RUNX1/3'CBFA2T1 gene showed variable breakpoints; the size of the inserted elements ranged from 2.4 to 44 Mb.
authors.affiliation: Hematology, University of Foggia, Foggia, Italy. emadhba@cimedoc.uniba.it
authors.forename: Giorgina
authors.initials: G
authors.lastname: Specchia
authors.forename: Francesco
authors.initials: F
authors.lastname: Albano
authors.forename: Luisa
authors.initials: L
authors.lastname: Anelli
authors.forename: Antonella
authors.initials: A
authors.lastname: Zagaria
authors.forename: Arcangelo
authors.initials: A
authors.lastname: Liso
authors.forename: Roberta
authors.initials: R
authors.lastname: La Starza
authors.forename: Marco
authors.initials: M
authors.lastname: Mancini
authors.forename: Lucia
authors.initials: L
authors.lastname: Sebastio
authors.forename: Emilia
authors.initials: E
authors.lastname: Giugliano
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Saglio
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Liso
authors.forename: Mariano
authors.initials: M
authors.lastname: Rocchi
mesh_terms: D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D000075142:RUNX1 Translocation Partner 1 Protein; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; D015514:Oncogene Proteins, Fusion; D011518:Proto-Oncogene Proteins; D000075142:RUNX1 Translocation Partner 1 Protein; C493728:RUNX1 protein, human; C082222:RUNX1T1 protein, human; D014157:Transcription Factors