title: BCR/ABL-negative chronic myeloid leukemia with ETV6/ABL fusion.
abstract: A BCR/ABL-negative chronic myeloid leukemia (CML) with t(12;14) (p12;q11-13) as the sole chromosomal abnormality was investigated by fluorescence in situ hybridization (FISH), which disclosed a cryptic insertion of ETV6 (previously called TEL), located at 12p12, into ABL at chromosome band 9q34. ETV6/ABL fusion was confirmed by RT-PCR, revealing that the first five exons of ETV6 were fused in frame with ABL at exon 2. Wild-type ETV6 was expressed, in accordance with the FISH results showing no deletion of the second ETV6 allele. ETV6/ABL chimeric transcripts have previously been reported in acute leukemias, but never before in CML. The present case suggests that ETV6/ABL positivity may constitute a new genetic subgroup of BCR-negative CML.
authors.affiliation: Department of Clinical Genetics, Lund University Hospital, Sweden.
authors.forename: P
authors.initials: P
authors.lastname: Andreasson
authors.forename: B
authors.initials: B
authors.lastname: Johansson
authors.forename: M
authors.initials: M
authors.lastname: Carlsson
authors.forename: I
authors.initials: I
authors.lastname: Jarlsfelt
authors.forename: T
authors.initials: T
authors.lastname: Fioretos
authors.forename: F
authors.initials: F
authors.lastname: Mitelman
authors.forename: M
authors.initials: M
authors.lastname: Höglund
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D001854:Bone Marrow Cells / Q000737:chemistry; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D004273:DNA, Neoplasm / Q000302:isolation & purification; D004268:DNA-Binding Proteins / Q000235:genetics*; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D016313:Genes, abl / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D016133:Polymerase Chain Reaction; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; D016044:Fusion Proteins, bcr-abl; D015514:Oncogene Proteins, Fusion; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors; D000097764:ETS Translocation Variant 6 Protein