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Thoas Fioretos

Thoas Fioretos

Research team manager

Thoas Fioretos

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

Author

  • Patrik Andreasson
  • Bertil Johansson
  • Magnus Carlsson
  • Ingvar Jarlsfelt
  • Thoas Fioretos
  • Felix Mitelman
  • Mattias Höglund

Summary, in 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.

Department/s

  • Division of Clinical Genetics

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 Inc.

Topic

  • Medical Genetics

Status

Published

ISBN/ISSN/Other

  • ISSN: 1045-2257