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PTEN
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Interpretation 2259
Tier 3
PTEN
Variants
PTEN P169H
Primary Sites
Brain
Tumor Types
Glioblastoma
Interpretation

PTEN is an obligate haplo-insufficient tumor suppressor gene and is mutated in a large number of cancers. It encodes a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/mTOR signaling pathway. Most PTEN mutations are loss-of-function mutations. Mono-allelic or bi-allelic loss of PTEN is found in a considerable fraction of tumors, including gliomas (75%). In glioblastoma, PTEN loss/deletion is associated with poor patient prognosis, and/or shorter disease-free survival. The PTEN P169H mutation, however, is not definitively known to cause a loss-of-function change in the PTEN protein and has been shown to confer a phosphatase activity similar to wild-type PTEN in yeast. This variant has been identified in one case of glioblastoma according to the literature. This result should be interpreted in the clinicopathologic context.

Citations
  1. Arslantas A, et al. The importance of genomic copy number changes in the prognosis of glioblastoma multiforme. Neurosurg Rev 2004;27(1):58-64
  2. Keniry M, et al. The role of PTEN signaling perturbations in cancer and in targeted therapy. Oncogene 2008;27(41):5477-85
  3. De Luca A, et al. The RAS/RAF/MEK/ERK and the PI3K/AKT signalling pathways: role in cancer pathogenesis and implications for therapeutic approaches. Expert Opin Ther Targets 2012;16 Suppl 2():S17-27
  4. Rodriguez-Escudero I, et al. A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. Hum Mol Genet 2011;20(21):4132-42
  5. Bonneau D, Longy M. Mutations of the human PTEN gene. Hum Mutat. 2000;16(2):109-22. Review.
  6. Tohma Y, et al. PTEN (MMAC1) mutations are frequent in primary glioblastomas (de novo) but not in secondary glioblastomas. J Neuropathol Exp Neurol. 1998 Jul;57(7):684-9.
Last updated: 2018-06-13 18:56:43 UTC
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