Research Article: Multifocal osteoclast-rich tumour in Paget bone disease and conventional giant cell tumour, two genetically distinct entities? Sequencing from a single case
Introduction:
Paget disease of bone (PDB) is a metabolic disorder with a strong genetic component, characterised by pronounced disorganised bone remodelling [1]. Complications of PDB include an increased risk of developing bone neoplasms, particularly osteosarcoma but not conventional giant cell tumour of bone (cGCTB) as defined by H3F3A mutations [2]. Recently, GCT-like lesions have been reported in patients affected by PDB with germline mutations in the zinc finger protein 687 (ZNF687) and PFN1 genes in Italian and Chinese…
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