DNA copy number alterations mark disease progression in paediatric chronic myeloid leukaemia
DNA copy number alterations mark disease progression in paediatric chronic myeloid leukaemia
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DOI：
10.1111/bjh.12850
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发表时间：
2014-07
影响因子：
6.5
通讯作者：
N. E. Sligte;M. Krumbholz;A. Pastorczak;B. Scheijen;J. Tauer;Christina Nowasz;E. Sonneveld;Geertruida H. Bock;T. M. Meeuwsen-de Boer;S. Reijmersdal;R. Kuiper;J. Bradtke;M. Metzler;M. Suttorp;E. D. Bont;F. N. Leeuwen
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文献类型：
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作者：
N. E. Sligte;M. Krumbholz;A. Pastorczak;B. Scheijen;J. Tauer;Christina Nowasz;E. Sonneveld;Geertruida H. Bock;T. M. Meeuwsen-de Boer;S. Reijmersdal;R. Kuiper;J. Bradtke;M. Metzler;M. Suttorp;E. D. Bont;F. N. Leeuwen
由于 CML-LyBC 的治疗选择有限，因此需要及早识别出有发生淋巴母细胞危象 (LyBC) 风险的慢性期慢性粒细胞白血病 (CML-CP) 儿童。我们使用多重连接依赖性探针扩增来确定 B 细胞淋巴白血病特异性拷贝数改变 (CNA)（例如 IKZF1、PAX5、CDKN2A 缺失）是否可以在 CML-CP 中检测到，并可用于预测疾病进展为 LyBC。所有 CML-LyBC 患者均检测到 CNA，但 77 名 CML-CP 患者均未检测到 CNA。基于这项研究，我们得出结论，CNA 仍然是疾病进展的标志。
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.