BCR/ABL-negative chronic myeloid leukemia with ETV6/ABL fusion

Genes Chromosomes Cancer. 1997 Nov;20(3):299-304.


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

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blotting, Southern
  • Bone Marrow Cells / chemistry
  • Chromosome Banding
  • Chromosome Mapping
  • Chromosomes, Human, Pair 12 / genetics
  • Chromosomes, Human, Pair 14 / genetics
  • DNA, Neoplasm / isolation & purification
  • DNA-Binding Proteins / genetics*
  • Fusion Proteins, bcr-abl / genetics
  • Genes, abl / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Male
  • Oncogene Proteins, Fusion / genetics*
  • Polymerase Chain Reaction
  • Proto-Oncogene Proteins c-ets
  • Repressor Proteins*
  • Transcription Factors / genetics*
  • Translocation, Genetic / genetics


  • DNA, Neoplasm
  • DNA-Binding Proteins
  • ETS translocation variant 6 protein
  • Oncogene Proteins, Fusion
  • Proto-Oncogene Proteins c-ets
  • Repressor Proteins
  • Transcription Factors
  • Fusion Proteins, bcr-abl