Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist gegebenenfalls nur via VPN oder Shibboleth (DFN-AAI) möglich. mehr Informationen...
Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas
Ist Teil von
Nature genetics, 2014-02, Vol.46 (2), p.161-165
Ort / Verlag
New York: Nature Publishing Group US
Erscheinungsjahr
2014
Quelle
MEDLINE
Beschreibungen/Notizen
Sandro Santagata, Gad Getz and colleagues report the discovery of a recurrent mutation in the oncogene
BRAF
in papillary craniopharyngiomas that does not occur in the histologically related adamantinomatous form. Their results have the potential to aid in diagnosis and treatment of these intracranial tumors.
Craniopharyngiomas are epithelial tumors that typically arise in the suprasellar region of the brain
1
. Patients experience substantial clinical sequelae from both extension of the tumors and therapeutic interventions that damage the optic chiasm, the pituitary stalk and the hypothalamic area
2
,
3
,
4
. Using whole-exome sequencing, we identified mutations in
CTNNB1
(β-catenin) in nearly all adamantinomatous craniopharyngiomas examined (11/12, 92%) and recurrent mutations in
BRAF
(resulting in p.Val600Glu) in all papillary craniopharyngiomas (3/3, 100%). Targeted genotyping revealed BRAF p.Val600Glu in 95% of papillary craniopharyngiomas (36 of 39 tumors) and mutation of
CTNNB1
in 96% of adamantinomatous craniopharyngiomas (51 of 53 tumors). The
CTNNB1
and
BRAF
mutations were clonal in each tumor subtype, and we detected no other recurrent mutations or genomic aberrations in either subtype. Adamantinomatous and papillary craniopharyngiomas harbor mutations that are mutually exclusive and clonal. These findings have important implications for the diagnosis and treatment of these neoplasms.