Pheochromocytoma and paraganglioma pathogenesis: Learning from genetic heterogeneity

Research output: Contribution to journalReview article

255 Scopus citations

Abstract

The neuroendocrine tumours pheochromocytomas and paragangliomas carry the highest degree of heritability in human neoplasms, enabling genetic alterations to be traced to clinical phenotypes through their transmission in families. Mutations in more than a dozen distinct susceptibility genes have implicated multiple pathways in these tumours, offering insights into kinase downstream signalling interactions and hypoxia regulation, and uncovering links between metabolism, epigenetic remodelling and cell growth. These advances extend to co-occurring tumours, including renal, thyroid and gastrointestinal malignancies. Hereditary pheochromocytomas and paragangliomas are powerful models for recognizing cancer driver events, which can be harnessed for diagnostic purposes and for guiding the future development of targeted therapies.

Original languageEnglish (US)
Pages (from-to)108-119
Number of pages12
JournalNature Reviews Cancer
Volume14
Issue number2
DOIs
StatePublished - Feb 1 2014

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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