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

  • Patrik Andreasson
  • Bertil Johansson
  • Magnus Carlsson
  • Ingvar Jarlsfelt
  • Thoas Fioretos
  • Felix Mitelman
  • Mattias Höglund
Publishing year: 1997
Language: English
Pages: 299-304
Publication/Series: Genes, Chromosomes and Cancer
Volume: 20
Issue: 3
Document type: Journal article
Publisher: John Wiley & Sons

Abstract english

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.


  • Medical Genetics


  • ISSN: 1045-2257
Thoas Fioretos
E-mail: thoas.fioretos [at]

Principal investigator

Division of Clinical Genetics

+46 46 222 45 95

+46 70 334 33 67