title: Aberrant EVI1 expression in acute myeloid leukemias associated with the t(3;8)(q26;q24).
abstract: EVI is a proto-oncogene that is activated in acute myeloid leukemia with chromosomal rearrangements that map to chromosome 3q26. We previously reported the clinicopathologic features of five cases of acute myeloid leukemia carrying t(3;8)(q26;q24). Using fluorescence in situ hybridization analysis, we demonstrate in the current study that the breakpoint on chromosome 3 is at EVI1/MDS1, and the breakpoint on chromosome 8 is just distal to the PVT1 oncogene homolog, a C-MYC activator in mice. The breakpoint on chromosome 8 was detected between the components of the LSI MYC dual-color break-apart rearrangement probe. Reverse-transcriptase polymerase chain reaction assay showed expression of EVI1 in all four cases analyzed, and DNA sequence analysis confirmed the findings. Reverse transcriptase polymerase chain reaction assay also demonstrated the expression of PVT1 and C-MYC in all four cases assessed. Western blot analysis detected EVI1 in one case analyzed. We conclude that the t(3;8)(q26;q24) results in deregulated EVI1 expression, similar to other balanced or unbalanced chromosomal translocations involving chromosome 3q26.
authors: School of Health Sciences, The University of Texas-M.D. Anderson Cancer Center, 1515 Holcombe Blvd., Houston, Texas 77030, USA.
authors: Patrick A
authors: PA
authors: Lennon
authors: Lynne V
authors: LV
authors: Abruzzo
authors: L Jeffrey
authors: LJ
authors: Medeiros
authors: Candy
authors: C
authors: Cromwell
authors: Xiang
authors: X
authors: Zhang
authors: Cameron C
authors: CC
authors: Yin
authors: Steven M
authors: SM
authors: Kornblau
authors: Marina
authors: M
authors: Konopieva
authors: Pei
authors: P
authors: Lin
mesh_terms: D000208:Acute Disease; D015153:Blotting, Western; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D015973:Gene Expression Regulation, Leukemic; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007951:Leukemia, Myeloid / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D000074008:MDS1 and EVI1 Complex Locus Protein; D011506:Proteins / Q000235:genetics; D000090063:Proto-Oncogene Mas; D016271:Proto-Oncogene Proteins c-myc / Q000235:genetics; D011519:Proto-Oncogenes / Q000235:genetics*; D062085:RNA, Long Noncoding; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D004268:DNA-Binding Proteins; C000715470:MAS1 protein, human; D000074008:MDS1 and EVI1 Complex Locus Protein; C063575:MECOM protein, human; C521123:PVT1 long-non-coding RNA, human; D011506:Proteins; D000090063:Proto-Oncogene Mas; D016271:Proto-Oncogene Proteins c-myc; D062085:RNA, Long Noncoding; D014157:Transcription Factors