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Genetic analysis of dasatinib-treated chronic myeloid leukemia rapidly developing into acute myeloid leukemia with monosomy 7 in Philadelphia-negative cells.

  • Nina Larsson
  • Rolf Billström
  • Henrik Lilljebjörn
  • Carin Lassen
  • Johan Richter
  • Marja Ekblom
  • Thoas Fioretos
Publishing year: 2010
Language: English
Pages: 89-95
Publication/Series: Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00
Volume: 199
Issue: 2
Document type: Journal article
Publisher: Elsevier

Abstract english

Despite the recent success of tyrosine kinase inhibitors (TKIs) in the treatment of chronic myeloid leukemia (CML), approximately 2-17% of patients develop clonal cytogenetic changes in the Philadelphia-negative (Ph(-)) cell population. A fraction of these patients, in particular those displaying trisomy 8 or monosomy 7, are at risk of developing a myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Consequently, there is a need to characterize the clinical features of such cases and to increase our understanding of the pathogenetic mechanisms underlying the emergence of clonal cytogenetic changes in Ph(-) cells. To date, most cases reported have received treatment with imatinib. Here we describe the case of a patient with CML who developed monosomy 7 in Ph(-) cells during dasatinib therapy. At 20 months after dasatinib initiation, the patient developed MDS, which rapidly progressed into AML. Genome-wide 500K SNP array analysis of the monosomy 7 clone revealed no acquired submicroscopic copy number changes. Given the strong association between monosomy 7 and mutation of genes involved in the RAS pathway in juvenile myelomonocytic leukemia, we also screened for pathogenetic variants in KRAS, NRAS, and PTPN11, but did not detect any changes.


  • Hematology
  • Medical Genetics
  • Cell and Molecular Biology


  • ISSN: 0165-4608
Thoas Fioretos
E-mail: thoas.fioretos [at]

Principal investigator

Division of Clinical Genetics

+46 46 222 45 95

+46 70 334 33 67