Molecular markers
Melanoma mutations

Author: Joshua R. Bradish, M.D.
Gregory A. Hosler, M.D., Ph.D.

Topic Completed: 1 August 2014

Revised: 28 February 2019

Copyright: 2014-2018,, Inc.

PubMed Search: PTEN[TI] melanoma free full text[sb]

See also: Stains - PTEN

Gregory A. Hosler, M.D., Ph.D.
Page views in 2018: 214
Page views in 2019 to date: 267
Cite this page: Bradish J. PTEN. website. Accessed September 22nd, 2019.
Definition / general
  • PTEN, phosphatase and tensin homologue, is a tumor suppressor gene located on chromosome 10 which is found in almost all tissues of the body
  • It inhibits the AKT pathway through dephosphorylation of PIP3 to PIP2
  • PTEN normally assists in halting cell division and triggering apoptosis when necessary (Oncogene 2003;22:3113)
Diagrams / tables

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Activating pathways

  • Many different types of PTEN mutations have been described (deletions, frameshift, missense, nonsense, etc.)
  • Loss of PTEN activity causes an upregulation in the AKT pathway
  • Exon 5, the area that encodes for the phosphatase activity, appears to be a hotspot for mutations (Cell Mol Life Sci 2012;69:1475)
Associated findings
Associated histological findings
  • While PTEN loss is found in both nevi as well as melanoma, there are no associated histological findings
Detection methods
  • Immunohistochemistry and FISH can detect deletion or decreased expression of PTEN
  • PCR and next generation sequencing have been used to detect specific PTEN mutations, however, many different mutations have been described (Am J Pathol 2000;157:1123)
Inhibitor therapy
  • No specific targeted therapy against PTEN currently exists
  • Other inhibitors targeting the PI3K / AKT / mTOR pathway may provide some benefit for patients
Mechanisms of resistance
  • No mechanisms of resistance have been evaluated
Resistance therapies
  • No resistance therapies have been evaluated
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