RAF gene fusions are specific to pilocytic astrocytoma in a broad paediatric brain tumour cohort
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Brain tumours are the most common solid tumour in children and are the primary cause of cancer-related death in children and young adults [4, 6]. The most prevalent childhood brain tumours are low-grade gliomas, specifically pilocytic astrocytomas (PAs, WHO Grade I) . PAs are slow-growing tumours which are often cystic, and may occur sporadically or in association with the genetic disorder Neurofibromatosis type 1. Several recent studies including our own have identified novel KIAA1549–BRAF and SRGAP3–RAF1 gene fusions in the majority of PAs tested [3, 7, 8, 12]. In these fusions, the N-terminal auto-inhibitory domains of the RAF proteins are replaced by those of KIAA1549 or SRGAP3, resulting in constitutive activation of the ERK/MAPK pathway. A recent study has suggested that the KIAA1549–BRAF fusion is more common in PAs originating in the cerebellum . In low-grade glioma without RAFgene fusions there is increasing evidence for activation of the ERK/MAPK pathway through...
KeywordsAstrocytoma Pilocytic Astrocytoma Local Research Ethic Committee Paediatric Brain Tumour Diffuse Astrocytoma
This work was supported by the Samantha Dickson Brain Tumour Trust, Great Ormond Street Hospital Children’s Charity and Cancer Research UK London Research Institute.
Conflict of interest statement
The authors declare that they have no conflict of interest.
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