Article
Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma.
Cancer cell - 13 Feb 2017
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
Abstract excerpt
We report a comprehensive molecular characterization of pheochromocytomas and paragangliomas (PCCs/PGLs), a rare tumor type. Multi-platform integration revealed that PCCs/PGLs are driven by diverse alterations affecting multiple genes and pathways. Pathogenic germline mutations occurred in eight PCC/PGL susceptibility genes. We identified CSDE1 as a somatically mutated driver gene, complementing four known...
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