Acta Neuropathologica

, Volume 120, Issue 2, pp 271–273 | Cite as

RAF gene fusions are specific to pilocytic astrocytoma in a broad paediatric brain tumour cohort

  • Andrew R. J. Lawson
  • Ruth G. Tatevossian
  • Kim P. Phipps
  • Simon R. Picker
  • Antony Michalski
  • Denise Sheer
  • Thomas S. JacquesEmail author
  • Tim ForshewEmail author

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) [1]. 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 KIAA1549BRAF and SRGAP3RAF1 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 KIAA1549BRAF fusion is more common in PAs originating in the cerebellum [5]. In low-grade glioma without RAFgene fusions there is increasing evidence for activation of the ERK/MAPK pathway through...


Astrocytoma Pilocytic Astrocytoma Local Research Ethic Committee Paediatric Brain Tumour Diffuse Astrocytoma 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



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.

Supplementary material

401_2010_693_MOESM1_ESM.pdf (50 kb)
Supplementary material 1 (PDF 49.5 kb)


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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Andrew R. J. Lawson
    • 1
  • Ruth G. Tatevossian
    • 1
    • 2
  • Kim P. Phipps
    • 3
  • Simon R. Picker
    • 4
    • 5
  • Antony Michalski
    • 6
  • Denise Sheer
    • 1
  • Thomas S. Jacques
    • 4
    • 5
    Email author
  • Tim Forshew
    • 1
    Email author
  1. 1.Queen Mary University of London, Centre for Neuroscience and Trauma, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and DentistryLondonUK
  2. 2.Cancer Research UK London Research InstituteLondonUK
  3. 3.Department of NeurosurgeryGreat Ormond Street Hospital for Children NHS TrustLondonUK
  4. 4.Department of HistopathologyGreat Ormond Street Hospital for Children NHS TrustLondonUK
  5. 5.Neural Development Unit, UCL-Institute of Child HealthUniversity College LondonLondonUK
  6. 6.Department of OncologyGreat Ormond Street Hospital for Children NHS TrustLondonUK

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