Identification of Isocitrate Dehydrogenase 2 (IDH2) Mutation in Carotid Body Paraganglioma

Front Endocrinol (Lausanne). 2021 Sep 20;12:731096. doi: 10.3389/fendo.2021.731096. eCollection 2021.


Carotid body paragangliomas (PGLs) are rare neuroendocrine tumors that develop within the adventitia of the medial aspect of the carotid bifurcation. Carotid body PGLs comprise about 65% of head and neck paragangliomas, however, their genetic background remains elusive. In the present study, we report one case of carotid body PGL with a somatic mutation in the gene encoding isocitrate dehydrogenase 2 (IDH2). The missense mutation in IDH2 resulted in R172G amino acid substitution, which exhibits neomorphic activity and production of D-2-hydroxyglutarate.

Keywords: D-2-hydroxyglutarate; IDH2; PET/CT; carotid body tumor; isocitrate dehydrogenase 2; paraganglioma.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural

MeSH terms

  • Carotid Body Tumor / enzymology
  • Carotid Body Tumor / genetics
  • Carotid Body Tumor / pathology*
  • Female
  • Glutarates / metabolism*
  • Humans
  • Isocitrate Dehydrogenase / genetics*
  • Middle Aged
  • Mutation*
  • Paraganglioma / enzymology
  • Paraganglioma / genetics
  • Paraganglioma / pathology*
  • Prognosis


  • Glutarates
  • alpha-hydroxyglutarate
  • IDH2 protein, human
  • Isocitrate Dehydrogenase