Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas
Nature Genetics, Volume 46, No. 2, Year 2014
Notification
URL copied to clipboard!
Description
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. © 2014 Nature America, Inc.
Authors & Co-Authors
Brastianos, Priscilla K.
United States, Boston
Massachusetts General Hospital
United States, Cambridge
Broad Institute
Taylor-Weiner, Amaro N.
United States, Cambridge
Broad Institute
Manley, Peter E.
United States, Boston
Dana-farber Cancer Institute
Jones, Robert T.
United States, Boston
Dana-farber Cancer Institute
Dias-Santagata, Dora
United States, Boston
Harvard Medical School
United States, Boston
Massachusetts General Hospital
Thorner, Aaron R.
United States, Boston
Dana-farber Cancer Institute
Lawrence, Michael S.
United States, Cambridge
Broad Institute
Rodriguez, Fausto J.
United States, Baltimore
Johns Hopkins University
Bernardo, Lindsay A.
United States, Boston
Massachusetts General Hospital
Schubert, Laura
United States, Boston
Dana-farber Cancer Institute
Sunkavalli, Ashwini
United States, Boston
Dana-farber Cancer Institute
Shillingford, Nick
United States, Boston
Boston Children's Hospital
Calicchio, Monica L.
United States, Boston
Boston Children's Hospital
Lidov, Hart Gw
United States, Boston
Harvard Medical School
United States, Boston
Boston Children's Hospital
United States, Boston
Brigham and Women's Hospital
Taha, Hala
Egypt, Cairo
Children's Cancer Hospital 57357
Martinez-Lage, Maria
United States, Philadelphia
Hospital of the University of Pennsylvania
Santi, Mariarita
United States, Philadelphia
The Children's Hospital of Philadelphia
Storm, Phillip B.
United States, Philadelphia
Hospital of the University of Pennsylvania
United States, Philadelphia
The Children's Hospital of Philadelphia
Lee, John Y.K.
United States, Philadelphia
Hospital of the University of Pennsylvania
Palmer, James N.
United States, Philadelphia
Hospital of the University of Pennsylvania
Adappa, Nithin D.
United States, Philadelphia
Hospital of the University of Pennsylvania
Scott, R. Michael
United States, Boston
Harvard Medical School
United States, Boston
Boston Children's Hospital
Dunn, Ian Frederick
United States, Boston
Harvard Medical School
United States, Boston
Brigham and Women's Hospital
Laws, Edward Raymond
United States, Boston
Harvard Medical School
United States, Boston
Brigham and Women's Hospital
Stewart, Chip
United States, Cambridge
Broad Institute
Ligon, Keith L.
United States, Boston
Harvard Medical School
United States, Boston
Dana-farber Cancer Institute
United States, Boston
Boston Children's Hospital
United States, Boston
Brigham and Women's Hospital
Hoang, Mai P.
United States, Boston
Harvard Medical School
United States, Boston
Massachusetts General Hospital
van Hummelen, Paul
United States, Boston
Harvard Medical School
United States, Boston
Dana-farber Cancer Institute
Hahn, William C.
United States, Boston
Harvard Medical School
United States, Cambridge
Broad Institute
United States, Boston
Dana-farber Cancer Institute
Louis, David N.
United States, Boston
Harvard Medical School
United States, Boston
Massachusetts General Hospital
Resnick, Adam C.
United States, Philadelphia
Hospital of the University of Pennsylvania
United States, Philadelphia
The Children's Hospital of Philadelphia
Kieran, Mark W.
United States, Boston
Harvard Medical School
United States, Boston
Dana-farber Cancer Institute
United States, Boston
Boston Children's Hospital
Getz, Gad A.
United States, Boston
Harvard Medical School
United States, Cambridge
Broad Institute
United States, Boston
Massachusetts General Hospital
Santagata, Sandro
United States, Boston
Harvard Medical School
United States, Boston
Boston Children's Hospital
United States, Boston
Brigham and Women's Hospital
United States, Boston
Dana-farber Cancer Institute
Statistics
Citations: 385
Authors: 34
Affiliations: 10
Identifiers
Doi:
10.1038/ng.2868
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Cancer
Genetics And Genomics
Violence And Injury