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Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma

hardtimess 添加于 2017/7/19 17:11:24  673次阅读 | 0次推荐 | 0个评论

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.

作 者:Lauren Fishbein, Ignaty Leshchiner, Vonn Walter, ..., Karel Pacak, Katherine L. Nathanson, Matthew D. Wilkerson
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学科领域:医学科学 » 肿瘤学 » 肿瘤病因
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原文链接:https://www.ncbi.nlm.nih.gov/pubmed/?term=Comprehensive+Molecular+Characterization+of+Pheochromocytoma+and+Paraganglioma
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