Neuro-Oncology Branch Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, United States.
Section of Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States.
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.
颈动脉体副神经节瘤（PGLs）是一种罕见的神经内分泌肿瘤，发生在颈动脉分叉处内侧的外膜中。颈动脉体 PGL 占头颈部副神经节瘤的 65%左右，但它们的遗传背景仍不清楚。在本研究中，我们报告了一例颈动脉体 PGL，其基因编码异柠檬酸脱氢酶 2（IDH2）存在体细胞突变。IDH2 的错义突变导致 R172G 氨基酸取代，表现出新功能活性和 D-2-羟戊酸的产生。
