DNA copy number alterations mark disease progression in paediatric chronic myeloid leukaemia
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Sligte, N.E. van der
Krumbholz, M.
Pastorczak, A.
Scheijen, B.
Tauer, J.T.
Nowasz, C.
Sonneveld, E.
Bock, G.H. de
Boer, T.G. Meeuwsen-de
Reijmersdal, S. van
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Abstract
Early recognition of children with chronic phase chronic myeloid leukaemia (CML-CP) at risk for developing a lymphoid blast crisis (LyBC) is desirable, because therapy options in CML-LyBC are limited. We used Multiplex Ligation-dependent Probe Amplification to determine whether B-cell lymphoid leukaemia-specific copy number alterations (CNAs) (e.g. IKZF1, PAX5, CDKN2A deletions) could be detected in CML-CP and may be used to predict disease progression to LyBC. CNAs were detected in all patients with CML-LyBC, but in none of the 77 patients with CML-CP. Based on this study we conclude that CNAs remain a hallmark of disease progression.