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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Blotting, Southern
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Bone Marrow Cells / chemistry
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Chromosome Banding
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Chromosome Mapping
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Chromosomes, Human, Pair 12 / genetics
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Chromosomes, Human, Pair 14 / genetics
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DNA, Neoplasm / isolation & purification
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DNA-Binding Proteins / genetics*
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ETS Translocation Variant 6 Protein
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Fusion Proteins, bcr-abl / genetics
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Genes, abl / genetics*
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Humans
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In Situ Hybridization, Fluorescence
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Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
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Male
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Oncogene Proteins, Fusion / genetics*
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Polymerase Chain Reaction
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Proto-Oncogene Proteins c-ets
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Repressor Proteins*
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Transcription Factors / genetics*
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Translocation, Genetic / genetics
Substances
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DNA, Neoplasm
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DNA-Binding Proteins
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Oncogene Proteins, Fusion
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Proto-Oncogene Proteins c-ets
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Repressor Proteins
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Transcription Factors
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Fusion Proteins, bcr-abl