van der Sligte Naomi E, Krumbholz Manuela, Pastorczak Agata, Scheijen Blanca, Tauer Josephine T, Nowasz Christina, Sonneveld Edwin, de Bock Geertruida H, Meeuwsen-de Boer Tiny G J, van Reijmersdal Simon, Kuiper Roland P, Bradtke Jutta, Metzler Markus, Suttorp Meinolf, de Bont Evelina S J M, van Leeuwen Frank N
Division of Paediatric Oncology/Haematology, Department of Paediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
Br J Haematol. 2014 Jul;166(2):250-3. doi: 10.1111/bjh.12850. Epub 2014 Mar 27.
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.
早期识别有发展为淋巴细胞母细胞危象（LyBC）风险的慢性期慢性髓性白血病（CML-CP）儿童是很有必要的，因为CML-LyBC的治疗选择有限。我们使用多重连接依赖探针扩增技术来确定是否能在CML-CP中检测到B细胞淋巴细胞白血病特异性拷贝数改变（CNA）（例如IKZF1、PAX5、CDKN2A缺失），并用于预测疾病进展为LyBC。所有CML-LyBC患者均检测到CNA，但77例CML-CP患者均未检测到。基于这项研究，我们得出结论，CNA仍然是疾病进展的标志。
