Dysregulation of HIF and VEGF is a unifying feature of the familial hamartoma syndromes

James Brugarolas, William G. Kaelin

Research output: Contribution to journalReview articlepeer-review

138 Scopus citations

Abstract

The LKB1 tumor suppressor protein controls the activity of the TSC1/TSC2 tumor suppressor complex. Mutations in LKB1 cause Peutz-Jeghers syndrome (PJS), and mutations in either TSC1 or TSC2 cause tuberous sclerosis complex - two syndromes characterized by the development of hamartomas. LKB1 activation by energy deprivation activates AMPK, which in turn phosphorylates and activates TSC2. TSC2 activation results in the inactivation of mTOR, a critical regulator of protein translation. How mTOR dysregulation after inactivation of LKB1 or TSC1/2 contributes to hamartoma development is not known. However, hypoxia-inducible factor (HIF) and VEGF are regulated by mTOR and are likely to play a contributory role.

Original languageEnglish (US)
Pages (from-to)7-10
Number of pages4
JournalCancer Cell
Volume6
Issue number1
DOIs
StatePublished - Jul 2004

ASJC Scopus subject areas

  • Oncology
  • Cell Biology
  • Cancer Research

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