期刊
ONCOGENE
卷 35, 期 9, 页码 1080-1089出版社
SPRINGERNATURE
DOI: 10.1038/onc.2015.172
关键词
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资金
- Agence Nationale de la Recherche [ANR-2011-JCJC-00701 MODEO-MAPP]
- European Union [259735]
- Programme Hospitalier de Recherche Clinique [COMETE 3 AOM 06 179]
- Plan Cancer Action (AAP Epigenetique et Cancer) [3.2 2009-2013, U970-C13089KS-INSERM PLAN CANCER]
- Cancer Research for Personalized Medicine - CARPEM project (Site de Recherche Integre sur le Cancer - SIRIC)
Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors of neural crest origin. These tumors are caused by germline or somatic mutations in known susceptibility genes in up to 70% of cases. Over the past few years, the emergence of high-throughput technologies has enabled the unprecedented characterization of genomic alterations in PCC/PGL, and has improved our understanding of the molecular mechanisms that distinguish the different tumor subtypes. Integrated genomic analyses have shown that the mutation status of PCC/PGL susceptibility genes strongly correlates with multi-omics data. These observations not only emphasize the role of the long-standing susceptibility genes as the main drivers of PCC/PGL tumorigenesis, but also illustrate the functional interdependence between genomic and epigenomic alterations. In this review, we discuss the genomic landscape underlying PCC/PGL, its functional consequences for tumorigenesis and tumor progression, and the potential clinical relevance of this knowledge for the application of precision medicine for patients with PCC/PGL.
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