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Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.

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  • معلومة اضافية
    • المصدر:
      Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
    • بيانات النشر:
      Original Publication: New York, NY : Nature Pub. Co., c1992-
    • الموضوع:
      Craniopharyngioma/*genetics ; Exome/*genetics ; Pituitary Neoplasms/*genetics ; Proto-Oncogene Proteins B-raf/*genetics; Base Sequence ; Bayes Theorem ; High-Throughput Nucleotide Sequencing ; Humans ; Immunohistochemistry ; Molecular Sequence Data ; Mutation, Missense/genetics ; Sequence Analysis, DNA ; beta Catenin/genetics ; beta Catenin/metabolism
    • نبذة مختصرة :
      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.
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    • Grant Information:
      K08 NS064168 United States NS NINDS NIH HHS; K12 CA090354 United States CA NCI NIH HHS; P01 CA142536 United States CA NCI NIH HHS; K12 CA090354-11 United States CA NCI NIH HHS
    • الرقم المعرف:
      0 (CTNNB1 protein, human)
      0 (beta Catenin)
      EC 2.7.11.1 (BRAF protein, human)
      EC 2.7.11.1 (Proto-Oncogene Proteins B-raf)
    • الموضوع:
      Date Created: 20140114 Date Completed: 20140325 Latest Revision: 20220316
    • الموضوع:
      20250114
    • الرقم المعرف:
      PMC3982316
    • الرقم المعرف:
      10.1038/ng.2868
    • الرقم المعرف:
      24413733