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首页> 外文期刊>Journal of Neuropathology and Experimental Neurology: Official Journal of the American Association of Neuropathologists, Inc >FGFR1 mutations in rosette-forming glioneuronal tumors of the fourth ventricle
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FGFR1 mutations in rosette-forming glioneuronal tumors of the fourth ventricle

机译：第四脑室形成玫瑰花结的神经胶质瘤中的FGFR1突变

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Rosette-forming glioneuronal tumors (RGNTs) are rare glioneuronal tumors of the fourth ventricle region that preferentially affect young adults. Despite their histologic similarity with pilocytic astrocytomas (PAs), RGNTs do not harbor KIAA1549-BRAF fusions or BRAF mutations, which represent the most common genetic alteration in PAs. Recently, mutations affecting the hotspot codons Asn546 and Lys656 of fibroblast growth factor receptor 1 (FGFR1) have been described in PAs. They are considered to be the most frequent mechanism of mitogen-activated protein kinase activation, alternative to KIAA1549-BRAF fusion and BRAF mutations. To uncover possible molecular similarities between RGNTs and PAs, we performed a mutational study of FGFR1 in 8 RGNTs. An FGFR1 N546K mutation and an FGFR1 K656E mutation were found in the tumors of 2 patients. Notably, the patient with an FGFR1 K656E mutated RGNT had undergone a resection of a diencephalic pilocytic astrocytoma with pilomyxoid features 5 years before the discovery of the fourth ventricle tumor; the mutational analysis uncovered the presence of the same FGFR1 K656E mutation in the diencephalic tumor. These results indicate that, in addition to histologic similarities, at least a subgroup of RGNTs may show close molecular relationships with PAs. Whether FGFR1 mutated RGNTs represent a specific subset of this rare tumor entity remains to be determined.
机译：形成玫瑰花结的神经胶质神经胶质瘤（RGNTs）是第四脑室区域的罕见神经胶质神经胶质瘤，其优先影响年轻人。尽管它们与毛细胞星形细胞瘤（PA）在组织学上相似，但RGNTs并未包含KIAA1549-BRAF融合或BRAF突变，它们代表了PAs中最常见的遗传改变。最近，在PA中已经描述了影响成纤维细胞生长因子受体1（FGFR1）的热点密码子Asn546和Lys656的突变。它们被认为是有丝分裂原激活的蛋白激酶激活的最常见机制，可替代KIAA1549-BRAF融合和BRAF突变。为了揭示RGNT和PA之间可能的分子相似性，我们对8个RGNT中的FGFR1进行了突变研究。在2例患者的肿瘤中发现了FGFR1 N546K突变和FGFR1 K656E突变。值得注意的是，具有FGFR1 K656E突变RGNT的患者在发现第四个脑室肿瘤之前5年，接受了具绒毛样特征的脑积水星形细胞瘤切除术。突变分析发现在双脑肿瘤中存在相同的FGFR1 K656E突变。这些结果表明，除了组织学相似性之外，至少一个RGNTs亚组可能与PAs表现出紧密的分子关系。 FGFR1突变的RGNTs是否代表这种罕见肿瘤实体的特定子集尚待确定。

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