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CTNNB1
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Interpretation 115
Tier 2
CTNNB1
Variants
CTNNB1 S37Y
CTNNB1 codon(s) 32, 33, 34, 35, 36, 37, 41, 45 any
Primary Sites
Brain
Spinal Cord
Brain, Supratentorial
Brain, Infratentorial
Tumor Types
Craniopharyngioma
Interpretation

Mutations in beta catenin (CTNNB1) are seen in about 90% of adamantinomatous craniopharyngiomas and mutations in BRAF (V600E) in papillary craniopharyngiomas. Adamantinomatous and papillary craniopharyngiomas have been shown to carry clonal mutations that are mutually exclusive. These findings indicate that the adamantinomatous and papillary subtypes have distinct molecular underpinnings, each principally driven by mutations in a single well-established oncogene - CTNNB1 in the adamantinomatous form and BRAF in the papillary form, independent of age. This may have implications for the diagnosis and treatment of these tumors.

Citations
  1. Brastianos et al...Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas. Nat Genet. 2014 February ; 46(2): 161-165
Last updated: 2020-07-24 14:51:45 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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