Author(s):
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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;
Kuiper, R.P.
; Bradtke, J.; Metzler, M.; Suttorp, M.; Bont, E.S. de;
Leeuwen, F.N. van
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Subject:
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Radboudumc 14: Tumours of the digestive tract RIMLS: Radboud Institute for Molecular Life Sciences Radboudumc 2: Cancer development and immune defence RIMLS: Radboud Institute for Molecular Life Sciences |
Organization:
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Human Genetics Paediatrics - OUD tm 2017 Laboratory Medicine |
Journal title:
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British Journal of Haematology
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Abstract:
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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.
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