Journal article
The genomic landscape of phaeochromocytoma
Aidan Flynn, Diana Benn, Roderick Clifton-Bligh, Bruce Robinson, Alison H Trainer, Paul James, Annette Hogg, Kelly Waldeck, Joshy George, Jason Li, Stephen B Fox, Anthony J Gill, Grant McArthur, Rodney J Hicks, Richard W Tothill
J Pathol | WILEY | Published : 2015
DOI: 10.1002/path.4503
Abstract
Phaeochromocytomas (PCCs) and paragangliomas (PGLs) are rare neural crest-derived tumours originating from adrenal chromaffin cells or extra-adrenal sympathetic and parasympathetic tissues. More than a third of PCC/PGL cases are associated with heritable syndromes involving 13 or more known genes. These genes have been broadly partitioned into two groups based on pseudo-hypoxic and receptor tyrosine kinase (RTK) signalling pathways. Many of these genes can also become somatically mutated, although up to one third of sporadic cases have no known genetic driver. Furthermore, little is known of the genes that co-operate with known driver genes to initiate and drive tumourigenesis. To explore th..
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Funding Acknowledgements
We would like to thank the patients and clinicians who provided materials and information for the study. This study was supported by the Victorian Cancer Agency through a translational research grant to RH. RC-B, DB, and BR received support from the Hillcrest Foundation and from the Pheo-Para Alliance.