MAPK pathway activation through BRAF gene fusion in pilocytic astrocytomas; A novel oncogenic fusion gene with diagnostic, prognostic, and therapeutic potential

Judith Wm Jeuken, Pieter Wesseling

Onderzoeksoutput: Bijdrage aan tijdschriftOpmerking/debat

57 Citaten (Scopus)

Samenvatting

Recently, a new mechanism for activation of B-RAF was identified resulting from a tandem duplication, generating a fusion protein with constitutive BRAF activity and thereby activating the MAPK pathway. Different fusion variants involving BRAF and KIAA1549 were demonstrated, present in 80% of pilocytic astrocytomas in children. As the KIAA1549-BRAF fusion gene is detected at a much lower frequency in diffuse low-grade astrocytomas and survival was much longer than expected in the patients with a non-pilocytic astrocytoma carrying the fusion gene, identification of this fusion gene can be of diagnostic and prognostic value. In the near future, interference with the (fusion gene causing) activation of the MAPK signalling cascade may open new therapeutic avenues for children with pilocytic astrocytomas, as a first line of defence against tumour growth or in situations where the tumour has become refractory to other therapeutic modalities.

Originele taal-2Engels
Pagina's (van-tot)324-328
Aantal pagina's5
TijdschriftJournal of Pathology
Volume222
Nummer van het tijdschrift4
DOI's
StatusGepubliceerd - dec. 2010
Extern gepubliceerdJa

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