A new NFIA:RAF1 fusion activating the MAPK pathway in pilocytic astrocytoma
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- 作者：Christina Westmose Ydea ; Astrid Sehestedb ; À ; ngels Mateu-Regué ; a ; Olga Ø ; strupa ; David Scheiec ; Karsten Nysomb ; Finn Cilius Nielsena ; Maria Rossinga ; caroline.maria.rossing@regionh.dk" class="auth_mail" title="E-mail the corresponding author
- 关键词：NFIA ; RAF1 ; fusion gene ; MAPK pathway ; pilocytic astrocytoma
- 刊名：Cancer Genetics
- 出版年：2016
- 出版时间：October 2016
- 年：2016
- 卷：209
- 期：10
- 页码：440-444
- 全文大小：1126 K
文摘
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This study reports the discovery of a novel fusion in a recurrent pilocytic astrocytoma.
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The NFIA:RAF1 fusion results in constitutive Raf-1 kinase activity, leading to activation of downstream MEK1/2.
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These findings will contribute to the current diagnostics of pediatric patients suffering from CNS-tumors.