International consensus for neuroblastoma molecular diagnostics: report from the International Neuroblastoma Risk Group (INRG) Biology Committee.

International consensus for neuroblastoma molecular diagnostics: report from the International Neuroblastoma Risk Group (INRG) Biology Committee.
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DOI:
10.1038/sj.bjc.6605014
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发表时间:
2009-05-05
影响因子:
8.8
通讯作者:
Maris, J. M.
Maris, J. M.
中科院分区:
医学1区
文献类型:
--
作者:
Ambros, P. F.;Ambros, I. M.;Brodeur, G. M.;Haber, M.;Khan, J.;Nakagawara, A.;Schleiermacher, G.;Speleman, F.;Spitz, R.;London, W. B.;Cohn, S. L.;Pearson, A. D. J.;Maris, J. M.

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神经母细胞瘤作为一个范例,利用肿瘤基因组数据来确定患者的预后和治疗分配。然而,在2004年国际神经母细胞瘤风险小组(INRG)工作组成立之前,在标记物、方法和数据解释方面并不存在国际共识,这损害了决定性遗传标记物的可靠性,并抑制了转化研究工作。INRG生物学委员会的目标是确定纳入新的INRG风险分类方案的高度预后遗传畸变,并制定精确的定义,决定性的生物标志物和技术标准化。INRG工作组对INRG数据库(n=8800例患者)的审查最终确定了最重要的神经母细胞瘤生物标志物。此外,生物学委员会还比较了不同合作小组的标准操作程序,以就方法、命名和未来方向达成国际共识。基于对INRG数据库的循证审查,达成共识,将MYCN状态、11q23等位基因状态和倍性纳入INRG分类系统。采用标准化的操作程序来分析这些遗传因素,并制定了适当的命名标准。神经母细胞瘤的治疗计划高度依赖于肿瘤细胞的基因组特征,并且很可能在应用全基因组技术的未来风险分配算法中使用一组全面的基于DNA的生物标志物。方法学和解释的共识对于统一INRG分类至关重要,并将极大地促进国际合作和临床及转化研究。
Neuroblastoma serves as a paradigm for utilising tumour genomic data for determining patient prognosis and treatment allocation. However, before the establishment of the International Neuroblastoma Risk Group (INRG) Task Force in 2004, international consensus on markers, methodology, and data interpretation did not exist, compromising the reliability of decisive genetic markers and inhibiting translational research efforts. The objectives of the INRG Biology Committee were to identify highly prognostic genetic aberrations to be included in the new INRG risk classification schema and to develop precise definitions, decisive biomarkers, and technique standardisation. The review of the INRG database (n=8800 patients) by the INRG Task Force finally enabled the identification of the most significant neuroblastoma biomarkers. In addition, the Biology Committee compared the standard operating procedures of different cooperative groups to arrive at international consensus for methodology, nomenclature, and future directions. Consensus was reached to include MYCN status, 11q23 allelic status, and ploidy in the INRG classification system on the basis of an evidence-based review of the INRG database. Standardised operating procedures for analysing these genetic factors were adopted, and criteria for proper nomenclature were developed. Neuroblastoma treatment planning is highly dependant on tumour cell genomic features, and it is likely that a comprehensive panel of DNA-based biomarkers will be used in future risk assignment algorithms applying genome-wide techniques. Consensus on methodology and interpretation is essential for uniform INRG classification and will greatly facilitate international and cooperative clinical and translational research studies.
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