打开APP

Oncotarget:新基因测试将革新脑癌治疗

  1. 基因测序
  2. 微卫星
  3. 核磁共振
  4. 肿瘤
  5. 脑癌

来源:生物谷 2014-08-22 09:24

近日,弗吉尼亚理工大学科学家已经找到一种新的方式来诊断脑癌,根据在“垃圾DNA”发现的遗传标记物。 这项发现发表在Oncotarget杂志上,可以彻底改变医生治疗某些脑癌。脑癌是导致儿童癌症死亡的第二大相关原因。总

2014年8月21日讯 /生物谷BIOON/--近日,弗吉尼亚理工大学科学家已经找到一种新的方式来诊断脑癌。这项可以彻底改变医生治疗某些脑癌的发现发表在Oncotarget杂志上。脑癌是导致儿童癌症死亡的第二大相关原因。总体而言,在2013年就有7万名新患者被诊断为原发性脑肿瘤。

然而,只有约三分之一的脑癌会发展为恶性的。通常情况下,当患者显示脑肿瘤症状,会选择核磁共振检查以定位肿瘤,但这不能确定肿瘤为良性或恶性,而且核磁共振检查通常是昂贵的,而活组织切片检查也偶尔有危险或不确定性。

一个检测遗传标记的简单血液测试可能会改变这一切。通过这个测试,癌症恶性程度较低的患者,可以确定不再需要活组织检查,Harold 'Skip' Garner教授表示:活检不仅昂贵,而且7%的进行活检的患者会有永久性的神经损伤,而这一新发现可能会降低经济成本,挽救生命。

微卫星DNA又称“垃圾DNA”,目前新一代基因组测序使研究人员能够找到多种疾病包括癌症和自闭症越来越多的微卫星DNA标记。该研究分析了来自National Institutes of Health 1000 Genomes Project和Cancer Genome Atlas项目中的患者血液基因序列。分析这些序列中的微卫星DNA后发现能预示神经胶质瘤患者不同阶段的微卫星DNA标记物。

这一发现有可能帮助开发出一个简单的血液测试,以帮助确定脑癌患者的恶性程度,以减少侵入性和非决定性的活检。(生物谷Bioon.com)

doi:
PMC:
PMID:

Somatic intronic microsatellite loci differentiate glioblastoma from lower-grade gliomas
Enusha Karunasena, Lauren J. McIver, Brian R. Rood, Xiaowei Wu, Hongxiao Zhu, Jasmin H. Bavarva, Harold R. Garner
 
Genomic studies of glioma sub-types have amassed new disease specific mutations, yet these only partially explain how mutations are linked to predisposition or progression. We hypothesized that microsatellite variation could expand the understanding of glioma etiology. Furthermore, germline markers for gliomas are typically undetectable; therefore we also hypothesize that the predictability of cancer-associated microsatellite loci in germline DNA may support the current hypothesis of a glioma cell of origin.
In this study, “normal” germline exome sequenced DNA from the 1000 Genomes Project (n=390) were compared with exome sequences from germlines of subjects with WHO grade II and III lower-grade glioma (LGG, n=136) and WHO grade IV glioblastoma (GBM, n=252) from The Cancer Genome Atlas to identify microsatellite loci non-randomly associated with glioma. From germline data, we identified 48 GBM-specific loci, 42 Lower-grade glioma specific loci and 29 loci that distinguish GBM from LGG (p≤ 0.01). We then attempted to distinguish WHO grade II glioma (n=67) from GBM resulting in 8 informative loci. Significantly, in all glioma grades, comparisons between tumor and matched germline sequences demonstrated no significant differences in these variants (p≥ 0.01). Therefore, these microsatellite loci are considered to be components of grade-specific signatures for glioma which distinguish germline sequences of individuals with cancer from those of individuals that are “normal”. In order to better understand the significance of these loci, we identified biological processes enriched in genes with these variants. Most strikingly, six helicase genes were enriched in the GBM cohort (p≤ 1.0 x10-3). The preservation of these glioma-specific loci could therefore serve as valuable diagnostic and therapeutic markers; especially since the heterogeneity of tumor cell populations can obscure the identification of mutations preceding a metastatic phenotype.

版权声明 本网站所有注明“来源:生物谷”或“来源:bioon”的文字、图片和音视频资料,版权均属于生物谷网站所有。非经授权,任何媒体、网站或个人不得转载,否则将追究法律责任。取得书面授权转载时,须注明“来源:生物谷”。其它来源的文章系转载文章,本网所有转载文章系出于传递更多信息之目的,转载内容不代表本站立场。不希望被转载的媒体或个人可与我们联系,我们将立即进行删除处理。

87%用户都在用生物谷APP 随时阅读、评论、分享交流 请扫描二维码下载->