Queen Mary University of London, Centre for Neuroscience and Trauma, Blizard Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London, UK.
J Cell Physiol. 2010 Mar;222(3):509-14. doi: 10.1002/jcp.21978.
Low-grade astrocytomas (LGAs) are the most common type of brain tumor in children. Until recently, very little was known about the underlying biology and molecular genetics of these tumors. However, within the past year a number of studies have shown that the MAPK pathway is constitutively activated in a high proportion of LGAs. Several genetic aberrations which generate this deregulation of the MAPK pathway have been identified, most notably gene fusions between KIAA1549 and BRAF. In this review we summarize these findings, discuss how these gene fusions may arise and consider possible implications for diagnosis and treatment.
低度星形细胞瘤(LGAs)是儿童中最常见的脑肿瘤类型。直到最近,人们对这些肿瘤的基础生物学和分子遗传学还知之甚少。然而,在过去的一年中,许多研究表明 MAPK 通路在很大比例的 LGAs 中持续激活。已经确定了几种导致 MAPK 通路失调的遗传异常,最显著的是 KIAA1549 和 BRAF 之间的基因融合。在这篇综述中,我们总结了这些发现,讨论了这些基因融合可能是如何产生的,并考虑了它们对诊断和治疗的可能影响。