Trisomy 8 in Philadelphia chromosome negative cell preceding the evolution of a Philadelphia chromosome positive clone with the same additional change during imatinib treatment: Revisiting the role of genetic instability in chronic myeloid leukemia

摘要

Cytogenetic clonal evolution (CE) was traditionally considered a criterion of disease progression and a poor prognostic factor in Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) in the pre-imatinib era. Its prognostic relevance was also investigated in patients with CML after the introduction of tyrosine kinase inhibitor (TKI) therapies and an adverse effect on survival and risk of relapse was confirmed [1,2]. In fact, for this reason, the occurrence of additional chromosome aberrations (ACAs) in Ph + cells was considered a failure according to 2009 European Leuke-miaNet (ELN) guidelines [3].