title: Pericentric chromosome 8 inversion associated with the 5'RUNX1/3'CBFA2T1 gene in acute myeloid leukemia cases.
abstract: In the present paper we report pericentric chromosome 8 inversions in two (2.4%) of 82 acute myeloid leukemia (AML) cases characterized by the 5'RUNX1/3'CBFA2T1 fusion gene. Molecular cytogenetic characterization was achieved using appropriate bacterial artificial chromosome (BAC) and P1 artificial chromosome (PAC) probes in fluorescence in situ hybridization (FISH) experiments. In these two cases the fusion gene was detected on the der(8) short arm, resulting from a pericentric chromosome 8 inversion followed by a t(8;21) rearrangement. These results suggest that heterogeneous mechanisms can lead to the generation of the 5'RUNX1/3'CBFA2T1chimeric gene.
authors.affiliation: Department of Hematology, University of Foggia, Viale Pinto 1, 71100 Foggia, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Anelli
authors.forename: F
authors.initials: F
authors.lastname: Albano
authors.forename: A
authors.initials: A
authors.lastname: Zagaria
authors.forename: A
authors.initials: A
authors.lastname: Liso
authors.forename: A
authors.initials: A
authors.lastname: Cuneo
authors.forename: M
authors.initials: M
authors.lastname: Mancini
authors.forename: V
authors.initials: V
authors.lastname: Liso
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
authors.forename: G
authors.initials: G
authors.lastname: Specchia
mesh_terms: D000208:Acute Disease; D000328:Adult; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007951:Leukemia, Myeloid / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D000075142:RUNX1 Translocation Partner 1 Protein; D014157:Transcription Factors / Q000235:genetics*
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