J. A. Daukszewicz

AD05 Case report: A rare H3F3A gene mutation causing recurrent paragangliomas and giant cell tumours of the spine

Somatic mutations in the H3F3A gene are most commonly implicated in the pathogenesis of giant cell tumours of bone but have also been associated with the development of bilateral pheochromocytomas and bladder and para-aortic paragangliomas. Due to the rarity of this mutation, evidence guiding clinical management...