Meta-mining of copy number profiles of high-risk neuroblastoma tumors.

Meta-mining of copy number profiles of high-risk neuroblastoma tumors.
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DOI:
10.1038/sdata.2018.240
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发表时间:
2018-10-30
期刊:
影响因子:
9.8
通讯作者:
De Preter K
De Preter K
中科院分区:
综合性期刊2区
文献类型:
--
作者:
Depuydt P;Koster J;Boeva V;Hocking TD;Speleman F;Schleiermacher G;De Preter K

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神经母细胞瘤是一种儿童交感神经系统肿瘤,主要由拷贝数畸变驱动,这可以预测全球神经母细胞瘤队列和低风险病例的生存结果。对于高危患者,仍然需要更好的预后生物标志物。通过一项国际合作,我们收集了在不同阵列平台上产生的556个高风险神经母细胞瘤的拷贝数概况。本文描述了数据集的组成,数据处理的方法,包括分割和畸变调用,以及数据验证。t-SNE分析显示样本根据MYCN状态聚类,显示阵列平台之间存在差异。97.3%的样本的特征是在神经母细胞瘤中经常受影响的区域存在节段畸变。局灶性像差影响已知与神经母细胞瘤有关的基因,如ALK和LIN28B。总之,我们编制了一个独特的高风险神经母细胞瘤肿瘤大拷贝数数据集,可通过R2和Shiny web应用程序获得。患者生存数据的可用性允许进一步研究拷贝数畸变的预后价值。
Neuroblastoma, a pediatric tumor of the sympathetic nervous system, is predominantly driven by copy number aberrations, which predict survival outcome in global neuroblastoma cohorts and in low-risk cases. For high-risk patients there is still a need for better prognostic biomarkers. Via an international collaboration, we collected copy number profiles of 556 high-risk neuroblastomas generated on different array platforms. This manuscript describes the composition of the dataset, the methods used to process the data, including segmentation and aberration calling, and data validation. t-SNE analysis shows that samples cluster according to MYCN status, and shows a difference between array platforms. 97.3% of samples are characterized by the presence of segmental aberrations, in regions frequently affected in neuroblastoma. Focal aberrations affect genes known to be involved in neuroblastoma, such as ALK and LIN28B. To conclude, we compiled a unique large copy number dataset of high-risk neuroblastoma tumors, available via R2 and a Shiny web application. The availability of patient survival data allows to further investigate the prognostic value of copy number aberrations.
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Depuydt P;Boeva V;Hocking TD;Cannoodt R;Ambros IM;Ambros PF;Asgharzadeh S;Attiyeh EF;Combaret V;Defferrari R;Fischer M;Hero B;Hogarty MD;Irwin MS;Koster J;Kreissman S;Ladenstein R;Lapouble E;Laureys G;London WB;Mazzocco K;Nakagawara A;Noguera R;Ohira M;Park JR;Pötschger U;Theissen J;Tonini GP;Valteau-Couanet D;Varesio L;Versteeg R;Speleman F;Maris JM;Schleiermacher G;De Preter K
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