The Genetic Landscape of Pheochromocytomas and Paragangliomas: Somatic Mutations Take Center Stage

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 7, 2013, Pages 2679-2681

  Dahia, Patricia L M ^a  

^a UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARCINOGENESIS; EDITORIAL; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; ONCOGENE H RAS; ONCOGENE K RAS; ONCOGENE N RAS; PARAGANGLIOMA; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SOMATIC MUTATION;

ABDOMINAL NEOPLASMS; ADRENAL GLAND NEOPLASMS; FEMALE; HUMANS; MALE; MUTATION; PARAGANGLIOMA; PHEOCHROMOCYTOMA; PROTO-ONCOGENE PROTEINS P21(RAS);

EID: 84879922746     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-2191     Document Type: Editorial

References (20)

1. Gimenez-Roqueplo AP, Dahia PL, Robledo M. An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Horm Metab Res. 2012;44:328-333.
2. Crona J, Delgado Verdugo A, Maharjan R, Stålberg P, Granberg D, Hellman P, Björklund P. Somatic mutations in H-RAS in sporadic pheochromocytoma and paraganglioma identified by exome sequencing. J Clin Endocrinol Metab. 2013;98:E1266-E1271.
3. Cox AD, Der CJ. Ras history: The saga continues. Small GTPases. 2010;1:2-27.
4. Nikiforov YE, Nikiforova MN. Molecular genetics and diagnosis of thyroid cancer. Nat Rev Endocrinol. 2011;7:569-580.
5. Agrawal N, Jiao Y, Sausen M, et al. Exomic sequencing of medullary thyroid cancer reveals dominant and mutually exclusive oncogenic mutations in RET and RAS. J Clin Endocrinol Metab. 2013;98:E364-E369.
6. Haigis KM, Kendall KR, Wang Y, et al. Differential effects of oncogenic K-Ras and N-Ras on proliferation, differentiation and tumor progression in the colon. Nat Genet. 2008;40:600-608. (Pubitemid 351601205)
7. Chen X, Mitsutake N, LaPerle K, et al. Endogenous expression of Hras(G12V) induces developmental defects and neoplasms with copy number imbalances of the oncogene. Proc Natl Acad Sci USA. 2009;106:7979-7984.
8. Huang SC, Koch CA, Vortmeyer AO, et al. Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas. Cancer Res. 2000;60:6223-6226.
9. Comino-Mendez I, de Cubas AA, Bernal C, et al. Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis. Hum Mol Genet. 2013;22:2169-2176.
10. Burnichon N, Vescovo L, Amar L, et al. Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Hum Mol Genet. 2011;20:3974-3985.
11. Burnichon N, Buffet A, Parfait B, et al. Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma. Hum Mol Genet. 2012;21:5397-5405.
12. Welander J, Larsson C, Backdahl M, et al. Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas. Hum Mol Genet. 2012;21:5406-5416.
13. Zhuang Z, Yang C, Lorenzo F, et al. Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. N Engl J Med. 2012;367:922-930.
14. Favier J, Buffet A, Gimenez-Roqueplo AP. HIF2A mutations in paraganglioma with polycythemia. N Engl J Med. 2012;367:2161;author reply 2161-2162.
15. Toledo RA, Qin Y, Srikantan S, et al. In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas. Endocr Relat Cancer. 2013;20:349-359.
16. Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet. 2011;157:83-89.
17. Cichowski K, Santiago S, Jardim M, Johnson BW, Jacks T. Dynamic regulation of the Ras pathway via proteolysis of the NF1 tumor suppressor. Genes Dev. 2003;17:449-454. (Pubitemid 36258759)
18. Dahia PL, Ross KN, Wright ME, et al. A HIF1α regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet. 2005;1:72-80.
19. Comino-Mendez I, Gracia-Aznarez FJ, Schiavi F, et al. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet. 2011;43:663-667.
20. Pao W, Wang TY, Riely GJ, et al. KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib. PLoS Med. 2005;2:e17.