Unknown

Dataset Information

0

Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma.


ABSTRACT: 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.

SUBMITTER: Fishbein L 

PROVIDER: S-EPMC5643159 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature

altmetric image

Publications


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, involvi  ...[more]

Similar Datasets

| S-EPMC10518975 | biostudies-literature
| S-EPMC5716829 | biostudies-literature
2023-09-25 | PXD039788 | Pride
| S-EPMC6520899 | biostudies-literature
| S-EPMC8905338 | biostudies-literature
| S-EPMC7482423 | biostudies-literature
| S-EPMC9923802 | biostudies-literature
| S-EPMC10073672 | biostudies-literature
| S-EPMC9760464 | biostudies-literature
| S-EPMC7051940 | biostudies-literature