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腾讯登录BJC：全基因组扫描技术为神经细胞瘤患者筛选出最优疗法
| 导读 | 近日，伦敦癌症研究中心研究者领导的一项最新研究旨在通过全基因组扫描的方法，来鉴别出染色体上的大规模损伤，这或许可以帮助医生选择最优的疗法来治疗儿童神经细胞瘤疾病。相关研究成果刊登在了国际杂志<em>British Journal of Cancer</em>上。<!--more-->
神经细胞瘤（Neuroblastoma）是一种发育神经系统的癌症，可以引... |
近日，伦敦癌症研究中心研究者领导的一项最新研究旨在通过全基因组扫描的方法，来鉴别出染色体上的大规模损伤，这或许可以帮助医生选择最优的疗法来治疗儿童神经细胞瘤疾病。相关研究成果刊登在了国际杂志<em>British Journal of Cancer</em>上。<!--more-->
神经细胞瘤（Neuroblastoma）是一种发育神经系统的癌症，可以引发儿童过早死亡。本项研究中，科学家们通过调查来自世界各地的8800名神经细胞瘤患者的医疗记录，发现一些大规模的遗传缺失和病人的生存率直接相关。全基因组的扫描技术将会有效地预测病人的预后状况。
研究者Andy Pearson表示，我们的研究发现，每一个诊断为神经细胞瘤的患者都应该有一个全基因组的大致评估。近些年来，扫描技术变得非常普遍而且低廉，因为我们认为实验室大多数的诊断都应该有这项扫描技术。未来基因测试或许为医生提供一种更为精确的预后诊断情况，并且帮助医生选择最优的疗法来治疗病人，这将会有效地延长病人生命以及减小副作用。
这项研究揭示了两段片段性的基因的改变-涉及了病人遗传信息复制的突变或者大量DNA的剔除。对全基因组的扫描技术将会提供更精确的患者预后信息。研究小组目前计划加入最新的研究信息来更新官方的分类系统信息，这将会为神经细胞瘤患者的治疗措施提供更为合理的个性化疗法。
编译自：<a title="" href="http://medicalxpress.com/news/2012-09-whole-genome-scan-treatment-childhood-cancer.html" target="_blank">Whole-genome scan helps select best treatment for childhood cancer</a>
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<img src="http://www.bioon.com/biology/UploadFiles/201209/2012091600062672.jpg" alt="" width="113" height="149" border="0" />
<a title="" href="http://dx.doi.org/doi:10.1038/bjc.2012.375" target="_blank">doi:10.1038/bjc.2012.375</a>
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<br/><strong>Segmental chromosomal alterations have prognostic impact in neuroblastoma: a report from the INRG project</strong><br/>
G Schleiermacher1,2, V Mosseri3, W B London4, J M Maris5, G M Brodeur5, E Attiyeh5, M Haber6, J Khan7, A Nakagawara8, F Speleman9, R Noguera10, G P Tonini11, M Fischer12, I Ambros13, T Monclair14, K K Matthay15, P Ambros13, S L Cohn16 and A D J Pearson17
background: In the INRG dataset, the hypothesis that any segmental chromosomal alteration might be of prognostic impact in neuroblastoma without MYCN amplification (MNA) was tested. methods: The presence of any segmental chromosomal alteration (chromosome 1p deletion, 11q deletion and/or chromosome 17q gain) defined a segmental genomic profile. Only tumours with a confirmed unaltered status for all three chromosome arms were considered as having no segmental chromosomal alterations. results: Among the 8800 patients in the INRG database, a genomic type could be attributed for 505 patients without MNA: 397 cases had a segmental genomic type, whereas 108 cases had an absence of any segmental alteration. A segmental genomic type was more frequent in patients >18 months and in stage 4 disease (P<0.0001). In univariate analysis, 11q deletion, 17q gain and a segmental genomic type were associated with a poorer event-free survival (EFS) (P<0.0001, P=0.0002 and P<0.0001, respectively). In multivariate analysis modelling EFS, the parameters age, stage and a segmental genomic type were retained in the model, whereas the individual genetic markers were not (P<0.0001 and RR=2.56; P=0.0002 and RR=1.8; P=0.01 and RR=1.7, respectively). conclusion: A segmental genomic profile, rather than the single genetic markers, adds prognostic information to the clinical markers age and stage in neuroblastoma patients without MNA, underlining the importance of pangenomic studies.
<br/>来源：生物谷
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神经细胞瘤（Neuroblastoma）是一种发育神经系统的癌症，可以引发儿童过早死亡。本项研究中，科学家们通过调查来自世界各地的8800名神经细胞瘤患者的医疗记录，发现一些大规模的遗传缺失和病人的生存率直接相关。全基因组的扫描技术将会有效地预测病人的预后状况。
研究者Andy Pearson表示，我们的研究发现，每一个诊断为神经细胞瘤的患者都应该有一个全基因组的大致评估。近些年来，扫描技术变得非常普遍而且低廉，因为我们认为实验室大多数的诊断都应该有这项扫描技术。未来基因测试或许为医生提供一种更为精确的预后诊断情况，并且帮助医生选择最优的疗法来治疗病人，这将会有效地延长病人生命以及减小副作用。
这项研究揭示了两段片段性的基因的改变-涉及了病人遗传信息复制的突变或者大量DNA的剔除。对全基因组的扫描技术将会提供更精确的患者预后信息。研究小组目前计划加入最新的研究信息来更新官方的分类系统信息，这将会为神经细胞瘤患者的治疗措施提供更为合理的个性化疗法。
编译自：<a title="" href="http://medicalxpress.com/news/2012-09-whole-genome-scan-treatment-childhood-cancer.html" target="_blank">Whole-genome scan helps select best treatment for childhood cancer</a>
<div id="ztload">
<div></div>
<div>
<div>
<img src="http://www.bioon.com/biology/UploadFiles/201209/2012091600062672.jpg" alt="" width="113" height="149" border="0" />
<a title="" href="http://dx.doi.org/doi:10.1038/bjc.2012.375" target="_blank">doi:10.1038/bjc.2012.375</a>
PMC:
PMID:
</div>
<div>
<br/><strong>Segmental chromosomal alterations have prognostic impact in neuroblastoma: a report from the INRG project</strong><br/>
G Schleiermacher1,2, V Mosseri3, W B London4, J M Maris5, G M Brodeur5, E Attiyeh5, M Haber6, J Khan7, A Nakagawara8, F Speleman9, R Noguera10, G P Tonini11, M Fischer12, I Ambros13, T Monclair14, K K Matthay15, P Ambros13, S L Cohn16 and A D J Pearson17
background: In the INRG dataset, the hypothesis that any segmental chromosomal alteration might be of prognostic impact in neuroblastoma without MYCN amplification (MNA) was tested. methods: The presence of any segmental chromosomal alteration (chromosome 1p deletion, 11q deletion and/or chromosome 17q gain) defined a segmental genomic profile. Only tumours with a confirmed unaltered status for all three chromosome arms were considered as having no segmental chromosomal alterations. results: Among the 8800 patients in the INRG database, a genomic type could be attributed for 505 patients without MNA: 397 cases had a segmental genomic type, whereas 108 cases had an absence of any segmental alteration. A segmental genomic type was more frequent in patients >18 months and in stage 4 disease (P<0.0001). In univariate analysis, 11q deletion, 17q gain and a segmental genomic type were associated with a poorer event-free survival (EFS) (P<0.0001, P=0.0002 and P<0.0001, respectively). In multivariate analysis modelling EFS, the parameters age, stage and a segmental genomic type were retained in the model, whereas the individual genetic markers were not (P<0.0001 and RR=2.56; P=0.0002 and RR=1.8; P=0.01 and RR=1.7, respectively). conclusion: A segmental genomic profile, rather than the single genetic markers, adds prognostic information to the clinical markers age and stage in neuroblastoma patients without MNA, underlining the importance of pangenomic studies.
<br/>来源：生物谷
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