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Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.

ABSTRACT: Craniopharyngiomas are epithelial tumors that typically arise in the suprasellar region of the brain. 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. Using whole-exome sequencing, we identified mutations in CTNNB1 (?-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.

SUBMITTER: Brastianos PK 

PROVIDER: S-EPMC3982316 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature

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Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.

Brastianos Priscilla K PK   Taylor-Weiner Amaro A   Manley Peter E PE   Jones Robert T RT   Dias-Santagata Dora D   Thorner Aaron R AR   Lawrence Michael S MS   Rodriguez Fausto J FJ   Bernardo Lindsay A LA   Schubert Laura L   Sunkavalli Ashwini A   Shillingford Nick N   Calicchio Monica L ML   Lidov Hart G W HG   Taha Hala H   Martinez-Lage Maria M   Santi Mariarita M   Storm Phillip B PB   Lee John Y K JY   Palmer James N JN   Adappa Nithin D ND   Scott R Michael RM   Dunn Ian F IF   Laws Edward R ER   Stewart Chip C   Ligon Keith L KL   Hoang Mai P MP   Van Hummelen Paul P   Hahn William C WC   Louis David N DN   Resnick Adam C AC   Kieran Mark W MW   Getz Gad G   Santagata Sandro S  

Nature genetics 20140112 2

Craniopharyngiomas are epithelial tumors that typically arise in the suprasellar region of the brain. 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. 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)  ...[more]

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