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

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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