Details

Autor(en) / Beteiligte

• Haefliger, Simon
• Bubbear, Judith
• Davies, Christropher
• Cottone, Lucia
• Amary, Fernanda
• Tirabosco, Roberto
• Cortes-Ciriano, Isidro
• O’Donnell, Paul
• Flanagan, Adrienne M

Titel

Multifocal osteoclast-rich tumour in Paget bone disease and conventional giant cell tumour, two genetically distinct entities? Sequencing from a single case

Ist Teil von

• Skeletal radiology, 2024-01, Vol.53 (1), p.175-178

Ort / Verlag

Berlin/Heidelberg: Springer Berlin Heidelberg

Erscheinungsjahr

2024

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• Paget disease of bone is a metabolic disorder with a strong genetic component, characterised by pronounced disorganised bone remodelling. Complications of this disease include an increased risk of developing bone neoplasms. Here, we describe the case of a 60-year-old Italian patient with Paget disease of bone, presenting with an osteoclast-rich tumour. Our analysis of this entity, based on the clinical, morphological and genetic data (whole exome sequencing), suggests that osteoclast-rich lesions in Paget disease of bone are genetically distinct from classical giant cell tumour of bone. We discuss the importance of differentiating these osteoclast-rich lesions.