作者
Christina Westmose Yde, Astrid Sehested, Àngels Mateu-Regué, Olga Østrup, David Scheie, Karsten Nysom, Finn Cilius Nielsen, Maria Rossing
发表日期
2016/10/1
期刊
Cancer genetics
卷号
209
期号
10
页码范围
440-444
出版商
Elsevier
简介
Highlights
- This study reports the discovery of a novel fusion in a recurrent pilocytic astrocytoma.
- The NFIA: RAF1 fusion results in constitutive Raf-1 kinase activity, leading to activation of downstream MEK1/2.
- These findings will contribute to the current diagnostics of pediatric patients suffering from CNS-tumors.
Pilocytic astrocytoma (PA) is one of the most common brain cancers among children and activation of the Mitogen-Activated Protein Kinase (MAPK) pathway is considered the hallmark. In the majority of cases, oncogenic BRAF fusions or BRAF V600E mutations are observed, while RAF1 or NF1 alterations are more rarely found. However, in some cases, no apparent cancer driver events can be identified. Here, we describe a novel fusion between the transcription factor nuclear factor 1A (NFIA) and Raf-1 proto-oncogene (RAF1) in a 5-year old boy with PA. The novel fusion was identified as part of a …
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CW Yde, A Sehested, À Mateu-Regué, O Østrup… - Cancer genetics, 2016
