Update on the genetics of paragangliomas

Anne Paule Gimenez-Roqueplo, Mercedes Robledo, Patricia L.M. Dahia

Research output: Contribution to journalReview articlepeer-review

9 Scopus citations


Paragangliomas (PGL) of the adrenal (also known as pheochromocytomas) or extraadrenal neural crest-derived cells are highly heritable tumors, usually driven by single pathogenic variants that occur mutually exclusively in genes involved in multiple cellular processes, including the response to hypoxia, MAPK/ERK signaling, and WNT signaling. The discovery of driver mutations has led to active clinical surveillance with outcome implications in familial PGL. The spectrum of mutations continues to grow and reveal unique mechanisms of tumorigenesis that inform tumor biology and provide the rationale for targeted therapy. Here we review recent progress in the genetics and molecular pathogenesis of PGLs and discuss new prospects for advancing research with new disease models and ongoing clinical trials presented at the recent International Symposium of Pheochromocytomas and Paragangliomas (ISP2022) held in October 2022 in Prague.

Original languageEnglish (US)
Article numbere220373
JournalEndocrine-Related Cancer
Issue number4
StatePublished - Apr 2023


  • Pheochromocytoma
  • germline mutations
  • paraganglioma
  • somatic mutations
  • susceptibility genes

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Oncology
  • Endocrinology
  • Cancer Research


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