[PDF][PDF] Comprehensive molecular characterization of pheochromocytoma and paraganglioma

L Fishbein, I Leshchiner, V Walter, L Danilova… - Cancer cell, 2017 - cell.com
L Fishbein, I Leshchiner, V Walter, L Danilova, AG Robertson, AR Johnson, TM Lichtenberg…
Cancer cell, 2017cell.com
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 …
Summary
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.
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