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

Fengchao Lang; Abhishek Jha; Leah Meuter; Karel Pacak; Chunzhang Yang

doi:10.3389/fendo.2021.731096

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.

Authors

Fengchao Lang¹, Abhishek Jha², Leah Meuter², Karel Pacak², Chunzhang Yang¹

Affiliations

¹ Neuro-Oncology Branch Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, United States.
² Section of Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States.

Abstract

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

Substances

Glutarates
alpha-hydroxyglutarate
IDH2 protein, human
Isocitrate Dehydrogenase