Vol 2, No 3 (2011)
Case report
Published online: 2011-10-18
Secondary acute myeloid leukemia with monosomy 7 in Ph-negative cells in a patient with chronic myeloid leukemia in chronic phase
Hematologia 2011;2(3):294-301.
Abstract
Clonal cytogenetic abnormalities in Philadelphia chromosome-negative (CCA/Ph–) bone marrow
cells are very rarely seen when chronic myeloid leukemia (CML) is diagnosed and have
only been observed in 4–8% of patients undergoing treatment with BCR-ALB1 tyrosine kinase
inhibitors (TKI). Moreover, the aetiology, clinical significance and potential risk factors of
CCA/Ph– occurring remain unresolved. Some of these constitute significant risk factors,
especially monosomy of chromosome 7, for the development of myelodysplastic syndrome or
acute myeloid leukaemia (AML) associated with a poor prognosis. In this study the case of
a 56-year old man in whom CML was diagnosed in 2001 is reported. Therapy was started
with hydroxyurea followed by treatment with interferon alpha and TKI, including imatinib,
nilotinib, and dasatinib. Monosomy of chromosome 7 in Ph– cells was detected during the
imatinib therapy. The development of secondary AML, in the presence of a complex karyotype,
occurred 32 months after CCA/Ph– was detected when a complete cytogenic response had been
achieved during treatment with dasatinib. Despite receiving daunorubicine and arabinoside
in a 3 + 7 induction regimen and one cycle of azacititdine, the patient responded poorly.
Indeed, after 4 months from when AML had been diagnosed the patient died due to infectious
complications. This case demonstrates the problems in making a diagnosis and of applying
appropriate therapy during prolonged exposure to TKI in a patient with CML and a secondary
AML.
Hematologia 2011; 2, 3: 294–301
Hematologia 2011; 2, 3: 294–301
Keywords: chronic myeloid leukemiaacute myeloid leukemiamonosomy of chromosome 7Philadelphia chromosomeclonal cytogenetic abnormalities in Ph– cells