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Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma

Cancer Cell. 2017 Feb 13;31(2):181-193. doi: 10.1016/j.ccell.2017.01.001


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 drivers (HRAS, RET, EPAS1, and NF1). We also discovered fusion genes in PCCs/PGLs, involving MAML3, BRAF, NGFR, and NF1. Integrated analysis classified PCCs/PGLs into four molecularly defined groups: a kinase signaling subtype, a pseudohypoxia subtype, a Wnt-altered subtype, driven by MAML3 and CSDE1, and a cortical admixture subtype. Correlates of metastatic PCCs/PGLs included the MAML3 fusion gene. This integrated molecular characterization provides a comprehensive foundation for developing PCC/PGL precision medicine.

Associated Data Files

These data represent a data freeze from February 28, 2016. Please note that more recent data are available via the GDC Data Commons.

The data are supported by different organizations. All data marked by [DCC] are DCC-validated archives. All data marked by [Supplementary] were created by the manuscript authors and you should contact the corresponding author for support.

Full Disease Sample List:

SNP and Copy Number variation from Affymetrix SNP6

RNA Expression from IlluminaHiseq RNASeqV2

miRNA from IlluminaGA

Methylation from Illumina Infinium Human Methylation450

Reverse Phase Protein Array (RPPA) Expression

Supplementary Data Files

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TCGA Data Portal

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