Erschienen in:
01.08.2010 | Correspondence
RAF gene fusions are specific to pilocytic astrocytoma in a broad paediatric brain tumour cohort
verfasst von:
Andrew R. J. Lawson, Ruth G. Tatevossian, Kim P. Phipps, Simon R. Picker, Antony Michalski, Denise Sheer, Thomas S. Jacques, Tim Forshew
Erschienen in:
Acta Neuropathologica
|
Ausgabe 2/2010
Einloggen, um Zugang zu erhalten
Excerpt
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
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 [
5]. In low-grade glioma without
RAF gene fusions there is increasing evidence for activation of the ERK/MAPK pathway through alternative mechanisms, such as point mutation of
KRAS or
BRAF [
2,
11,
13]. …