"1752-296X" . "6"^^ . . . . "Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options" . "20" . . "succinate dehydrogenase; pheochromocytoma; paraganglioma; mutation; gene"@en . "RIV/00216208:11130/13:10209747" . . "I" . "000318024200005" . "http://dx.doi.org/10.1097/MED.0b013e32835fcc45" . "Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options"@en . "Musil, Zden\u011Bk" . . . . "11130" . "Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options" . . "Current Opinion in Endocrinology, Diabetes and Obesity" . "10.1097/MED.0b013e32835fcc45" . . "RIV/00216208:11130/13:10209747!RIV14-MSM-11130___" . "Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options"@en . "3" . "US - Spojen\u00E9 st\u00E1ty americk\u00E9" . "3"^^ . "2"^^ . "Pacak, Karel" . . . "V\u00EDcha, Ale\u0161" . . "Purpose of review To summarize the recent advances in the genetics of pheochromocytoma and paraganglioma (PHEO/PGL), focusing on the new susceptibility genes and dividing PHEOs/PGLs into two groups based on their transcription profile. Recent findings Recently, TMEM127, MYC-associated factor X, and hypoxia-inducible factor (HIF) 2 alpha have been described in the pathogenesis of PHEOs/PGLs. Thus, now about 30-40% of these tumors are linked to the germline mutations, which also include mutations in the VHL, RET, NF1, SDHx, and SDHAF2 genes. Furthermore, PHEOs/PGLs have been divided into two groups, cluster 1 (SDHx/VHL) and cluster 2 (RET/NF1), based on the transcription profile revealed by genome-wide expression microarray analysis. Summary PHEOs/PGLs are the most inherited tumors among (neuro) endocrine tumors. Future approaches in genetics, including whole-genome sequencing, will allow the discovery of additional PHEO/PGL susceptibility genes. The current division of PHEOs/PGLs into cluster 1 and 2 provides us with additional knowledge related to the pathogenesis of these tumors, including the introduction of new treatment options for patients with metastatic PHEOs/PGLs. New discoveries related to the role of the HIF-1/HIF-2 alpha genes in the pathogenesis of almost all inherited PHEOs/PGLs may call for a new regrouping of these tumors and discoveries of new treatment targets."@en . "76410" . . . "Purpose of review To summarize the recent advances in the genetics of pheochromocytoma and paraganglioma (PHEO/PGL), focusing on the new susceptibility genes and dividing PHEOs/PGLs into two groups based on their transcription profile. Recent findings Recently, TMEM127, MYC-associated factor X, and hypoxia-inducible factor (HIF) 2 alpha have been described in the pathogenesis of PHEOs/PGLs. Thus, now about 30-40% of these tumors are linked to the germline mutations, which also include mutations in the VHL, RET, NF1, SDHx, and SDHAF2 genes. Furthermore, PHEOs/PGLs have been divided into two groups, cluster 1 (SDHx/VHL) and cluster 2 (RET/NF1), based on the transcription profile revealed by genome-wide expression microarray analysis. Summary PHEOs/PGLs are the most inherited tumors among (neuro) endocrine tumors. Future approaches in genetics, including whole-genome sequencing, will allow the discovery of additional PHEO/PGL susceptibility genes. The current division of PHEOs/PGLs into cluster 1 and 2 provides us with additional knowledge related to the pathogenesis of these tumors, including the introduction of new treatment options for patients with metastatic PHEOs/PGLs. New discoveries related to the role of the HIF-1/HIF-2 alpha genes in the pathogenesis of almost all inherited PHEOs/PGLs may call for a new regrouping of these tumors and discoveries of new treatment targets." . . . "[D5001EC7D245]" . .