Identification of Isocitrate Dehydrogenase 2 (IDH2) Mutation in Carotid Body Paraganglioma
Keyword(s):
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.
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1992 ◽
Vol 267
(26)
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pp. 18631-18638
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1991 ◽
Vol 266
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pp. 12242-12248
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2001 ◽
Vol 183
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pp. 1954-1960
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1988 ◽
Vol 8
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pp. 1113-1122
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2004 ◽
Vol 186
(15)
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pp. 4885-4893
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