Advances in the genetics of glioblastoma: are we reaching critical mass?
Advances in the genetics of glioblastoma: are we reaching critical mass?
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DOI：
10.1038/nrneurol.2009.96
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发表时间：
2009-08
影响因子：
38.1
通讯作者：
Schiff, David
中科院分区：
文献类型：
--
作者：
Purow, Benjamin;Schiff, David
胶质母细胞瘤是最常见和最高级别的脑肿瘤，仅在美国每年就造成超过10，000人死亡。鉴于这种肿瘤对标准手术、放疗和化疗的抵抗力，了解潜在的遗传病变至关重要。最近，癌症基因组图谱（TCGA）项目和其他组织利用最新技术对胶质母细胞瘤进行全面分析的努力正在解决这一需求。胶质母细胞瘤中的一些遗传畸变已经知道了几十年，但新的分析计划的早期结果进一步阐明了这种疾病的相关遗传学。一些遗传性病变，如TP53突变，NF 1缺失或突变，ERBB 2扩增，已被发现比以前报道的更常见。还取得了新的和意想不到的发现，例如继发性胶质母细胞瘤中IDH1和IDH2基因的频繁突变。我们可能会推测，我们正在接近一个全面的知识，涉及胶质母细胞瘤的遗传病变，虽然其他重大发现无疑仍有待作出。此外，将我们最新的知识整合到胶质母细胞瘤患者的新疗法（可能是个性化疗法）中的复杂任务仍然摆在我们面前。
Glioblastoma is the most common and highest-grade brain tumor, causing over 10,000 deaths each year in the US alone. Given the resistance of this tumor to standard surgery, radiation and chemotherapy, an understanding of the underlying genetic lesions is vital. Recent efforts to comprehensively profile glioblastomas using the latest technologies, both by The Cancer Genome Atlas (TCGA) project and by other groups, are addressing this need. Some genetic aberrations in glioblastoma have been known for decades, but early output from the new profiling initiatives has further illuminated the relevant genetics in this disease. Some genetic lesions, such as TP53 mutation, NF1 deletion or mutation, and ERBB2 amplification, have been found to be more common than was previously reported. New and unexpected discoveries have also been made, such as frequent mutations of the IDH1 and IDH2 genes in secondary glioblastoma. We might be tempted to speculate that we are approaching a comprehensive knowledge of the genetic lesions involved in glioblastoma, although other major discoveries doubtless remain to be made. In addition, the complex task of incorporating our updated knowledge into new—and possibly personalized—therapies for patients with glioblastoma still lies ahead.
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