Further evidence for a somatic KRAS mutation in a Pilocytic astrocytoma
Further evidence for a somatic KRAS mutation in a Pilocytic astrocytoma
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DOI：
10.1055/s-2007-984451
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发表时间：
2007-04-01
期刊：
影响因子：
1.4
通讯作者：
Omran, H.
中科院分区：
文献类型：
--
作者：
Janzarik, W. G.;Kratz, C. P.;Omran, H.
星形细胞瘤是儿童期最常见的脑肿瘤。然而，星形细胞瘤WHO I级和11级的分子病因学知识是有限的。I型神经纤维瘤病患者Ras-鸟苷三磷酸酶激活蛋白（神经纤维蛋白）的种系突变易患毛细胞型星形细胞瘤。这种关联表明Ras信号通路的组成性激活在星形细胞瘤的发展中起着重要作用。我们筛选了25例WHO I和11例星形细胞瘤的PTPN 11、NRAS、KRAS和HRAS基因突变，并在1例毛细胞星形细胞瘤中鉴定了体细胞G12 A KRAS突变。这些数据表明Ras在这些肿瘤中很少突变。没有Ras或神经纤维蛋白突变的星形细胞瘤可能含有该途径的其他蛋白质的突变，导致Ras信号过度活跃。
Astrocytomas are the most common brain tumors of childhood. However, knowledge of the molecular etiology of astrocytomas WHO grade I and 11 is limited. Germline mutations in the Ras-guano-sine triphosphatase-activating protein, neurofibromin, in individuals with neurofibromatosis type I predispose to pilocytic astrocytomas. This association suggests that constitutive activation of the Ras signaling pathway plays a fundamental role in astrocytoma development. We screened 25 WHO I and 11 astrocytomas for mutations of PTPN11, NRAS, KRAS, and HRAS genes and identified the somatic G12A KRAS mutation in one pilocytic astrocytoma. These data suggest that Ras is rarely mutated in these tumors. Analyzed astrocytomas without mutations in Ras or neurofibromin may harbor mutations in other proteins of this pathway leading to hyperactive Ras signaling.