WCMC logo
PMKB
  • WCMC logoPMKB
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity
  • Login
PIK3CA
  • Information
  • View History
  • Pending Review
Interpretation 258
Tier 2
PIK3CA
Variants
Primary Sites
Brain
Tumor Types
Medulloblastoma
Interpretation

PIK3CA mutations have been identified in pediatric and adult gliomas including: anaplastic oligodendrogliomas, anaplastic astrocytomas, glioblastoma multiforme, rosette forming glioneuronal tumors and medulloblastomas. Although PIK3CA mutations are reported in medulloblastoma, their role in tumorigenesis remains controversial. According to some preclinical studies, mutations in PIK3CA likely activate the AKT pathway to progress, rather than initiate, WNT-medulloblastoma. PIK3CA mutations are potentially targetable in some settings and pathway inhibitors are currently under investigation.

Citations
  1. Robinson G, et al. Novel mutations target distinct subgroups of medulloblastoma. Nature 2012;488(7409):43-8
  2. Hartmann C, et al. PIK3CA mutations in glioblastoma multiforme. Acta Neuropathol 2005;109(6):639-42
  3. Gallia GL, et al. PIK3CA gene mutations in pediatric and adult glioblastoma multiforme. Mol Cancer Res 2006;4(10):709-14
  4. Broderick DK, et al. Mutations of PIK3CA in anaplastic oligodendrogliomas, high-grade astrocytomas, and medulloblastomas. Cancer Res 2004;64(15):5048-50
  5. Theeler BJ, et al. Adult brainstem gliomas: Correlation of clinical and molecular features. J Neurol Sci 2015;353(1-2):92-7
  6. Gessi M, et al. FGFR1 mutations in Rosette-forming glioneuronal tumors of the fourth ventricle. J Neuropathol Exp Neurol 2014;73(6):580-4
Last updated: 2016-04-17 17:39:22 UTC
PMKB Bot
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity

Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


HELP
User Guide
Video Tutorial
INFO
About
Latest
API
Twitter
CONTACT US
Contact

Englander Institute for Precision Medicine
© Weill Cornell Medicine | Version 1.7.2Privacy PolicyTerms of use