@article{dd79f5c90f9e403d909d5d8cc27810a6,
title = "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 (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.",
author = "Brastianos, {Priscilla K.} and Amaro Taylor-Weiner and Manley, {Peter E.} and Jones, {Robert T.} and Dora Dias-Santagata and Thorner, {Aaron R.} and Lawrence, {Michael S.} and Rodriguez, {Fausto J.} and Bernardo, {Lindsay A.} and Laura Schubert and Ashwini Sunkavalli and Nick Shillingford and Calicchio, {Monica L.} and Lidov, {Hart G.W.} and Hala Taha and Maria Martinez-Lage and Mariarita Santi and Storm, {Phillip B.} and Lee, {John Y.K.} and Palmer, {James N.} and Adappa, {Nithin D.} and Scott, {R. Michael} and Dunn, {Ian F.} and Laws, {Edward R.} and Chip Stewart and Ligon, {Keith L.} and Hoang, {Mai P.} and {Van Hummelen}, Paul and Hahn, {William C.} and Louis, {David N.} and Resnick, {Adam C.} and Kieran, {Mark W.} and Gad Getz and Sandro Santagata",
note = "Funding Information: and P.K.B. is supported by grant K12 CA090354-11, the Brain Science Foundation, Susan G. Komen for the Cure, the Terri Brodeur Breast Cancer Foundation, the Conquer Cancer Foundation and the American Brain Tumor Association. Funding Information: We thank M. Ducar for his assistance with genomic analyses; S. Chauvin for project management; L. Brown and H. Malkin for assisting with sample collection; T. Woo, B. Rich, R. Machaidze and D. Feldman for technical assistance; N. Stransky for the design of Figure 2a; and H. Taylor-Weiner and C.H. Brastianos for critical review of the manuscript. This work was supported by the Jared Branfman Sunflowers for Life Fund for Pediatric Brain and Spinal Cancer Research, the Pediatric Low-Grade Astrocytoma (PLGA) Program (S.S., W.C.H. and Charles D. Stiles), Pedals for Pediatrics and the Clark Family (P.E.M. and M.W.K.), the Stahl Family Charitable Foundation (P.E.M.), the Stop & Shop Pediatric Brain Tumor Program (P.E.M. and M.W.K.), the Pediatric Brain Tumor Clinical and Research Fund (P.E.M. and M.W.K.), the Children{\textquoteright}s Brain Tumor Foundation and the V Foundation (S.S.). S.S. is supported by grant K08 NS064168,",
year = "2014",
month = feb,
doi = "10.1038/ng.2868",
language = "English (US)",
volume = "46",
pages = "161--165",
journal = "Nature genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "2",
}