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

被引：8

作者：

Lang, Fengchao ^{[1
]}

Jha, Abhishek ^{[2
]}

Meuter, Leah ^{[2
]}

Pacak, Karel ^{[2
]}

Yang, Chunzhang ^{[1
]}

机构：

[1] NCI, Neurooncol Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA

[2] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Med Neuroendocrinol, NIH, Bethesda, MD USA

来源：

FRONTIERS IN ENDOCRINOLOGY | 2021年 / 12卷

关键词：

paraganglioma; carotid body tumor; PET; CT; isocitrate dehydrogenase 2; IDH2; D-2-hydroxyglutarate; PHEOCHROMOCYTOMA; GENETICS;

D O I：

10.3389/fendo.2021.731096

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.</p>

引用

页数：6

共 26 条

[1] Oncogenic Isocitrate Dehydrogenase Mutations: Mechanisms, Models, and Clinical Opportunities [J].

Cairns, Rob A. ;

Mak, Tak W. .

CANCER DISCOVERY, 2013, 3 (07) :730-741

[2] Sensitive Determination of Onco-metabolites of D- and L-2-hydroxyglutarate Enantiomers by Chiral Derivatization Combined with Liquid Chromatography/Mass Spectrometry Analysis [J].

Cheng, Qing-Yun ;

Xiong, Jun ;

Huang, Wei ;

Ma, Qin ;

Ci, Weimin ;

Feng, Yu-Qi ;

Yuan, Bi-Feng .

SCIENTIFIC REPORTS, 2015, 5

[3] Molecular Pathways: Isocitrate Dehydrogenase Mutations in Cancer [J].

Clark, Owen ;

Yen, Katharine ;

Mellinghoff, Ingo K. .

CLINICAL CANCER RESEARCH, 2016, 22 (08) :1837-1842

[4] New Perspectives on Pheochromocytoma and Paraganglioma: Toward a Molecular Classification [J].

Crona, Joakim ;

Taieb, David ;

Pacak, Karel .

ENDOCRINE REVIEWS, 2017, 38 (06) :489-515

[5] IDH mutations in cancer and progress toward development of targeted therapeutics [J].

Dang, L. ;

Yen, K. ;

Attar, E. C. .

ANNALS OF ONCOLOGY, 2016, 27 (04) :599-608

[6] Isocitrate Dehydrogenase Mutation and (R)-2-Hydroxyglutarate: From Basic Discovery to Therapeutics Development [J].

Dang, Lenny ;

Su, Shin-San Michael .

ANNUAL REVIEW OF BIOCHEMISTRY, VOL 86, 2017, 86 :305-331

[7] Cancer-associated IDH1 mutations produce 2-hydroxyglutarate [J].

Dang, Lenny ;

White, David W. ;

Gross, Stefan ;

Bennett, Bryson D. ;

Bittinger, Mark A. ;

Driggers, Edward M. ;

Fantin, Valeria R. ;

Jang, Hyun Gyung ;

Jin, Shengfang ;

Keenan, Marie C. ;

Marks, Kevin M. ;

Prins, Robert M. ;

Ward, Patrick S. ;

Yen, Katharine E. ;

Liau, Linda M. ;

Rabinowitz, Joshua D. ;

Cantley, Lewis C. ;

Thompson, Craig B. ;

Heiden, Matthew G. Vander ;

Su, Shinsan M. .

NATURE, 2009, 462 (7274) :739-U52

[8] Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma [J].

Fishbein, Lauren ;

Leshchiner, Ignaty ;

Walter, Vonn ;

Danilova, Ludmila ;

Robertson, A. Gordon ;

Johnson, Amy R. ;

Lichtenberg, Tara M. ;

Murray, Bradley A. ;

Ghayee, Hans K. ;

Else, Tobias ;

Ling, Shiyun ;

Jefferys, Stuart R. ;

de Cubas, Aguirre A. ;

Wenz, Brandon ;

Korpershoek, Esther ;

Amelio, Antonio L. ;

Makowski, Liza ;

Rathmell, W. Kimryn ;

Gimenez-Roqueplo, Anne-Paule ;

Giordano, Thomas J. ;

Asa, Sylvia L. ;

Tischler, Arthur S. ;

Pacak, Karel ;

Nathanson, Katherine L. ;

Wilkerson, Matthew D. .

CANCER CELL, 2017, 31 (02) :181-193

[9] Insulator dysfunction and oncogene activation in IDH mutant gliomas [J].

Flavahan, William A. ;

Drier, Yotam ;

Liau, Brian B. ;

Gillespie, Shawn M. ;

Venteicher, Andrew S. ;

Stemmer-Rachamimov, Anat O. ;

Suva, Mario L. ;

Bernstein, Bradley E. .

NATURE, 2016, 529 (7584) :110-+

[10] Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma [J].

Galan, S. R. ;

Kann, P. H. .

CLINICAL ENDOCRINOLOGY, 2013, 78 (02) :165-175

← 1 2 3 →