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Craniopharyngioma: Genetics and management perspective

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Dr Carles Gaston, Massuet    19 November 2018

  1. Craniopharyngiomas (CPs) are tumors that arise from the pituitary gland. They are of two types – Adamantinomatous (aCPs), and papillary (pCPs).
  2. Genotyping tumors to identify therapeutic treatments is important
  3. pCPs can respond to BRAF and MAPK-pathway inhibitors
  1. Vemurafenib and combination of debrafenib and trametinib
  2. Limitations: only 2 patients reported so far

    4· No adequate animal model for papillary craniopharyngioma exist

    5. Targeted NGS shows that CTNNB1 mutations are present in 74% of aCP cases

    6· 10% aCPs have mutations in BRAF oncogene (at low allelic frequency)

    7· CTNNB1 mutations can co-exist with BRAF indicating that they are not mutually exclusive and subtype specific

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