From bone alterations to tumours: Genetic drivers linking Paget's disease of bone to cancer.

doi:10.1016/j.critrevonc.2026.105387

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Article

From bone alterations to tumours: Genetic drivers linking Paget's disease of bone to cancer.

Critical reviews in oncology/hematology - 1 Sept 2026

Gianfrancesco Fernando, Scotto di Carlo Federica

Abstract excerpt

Paget's disease of bone (PDB) is a metabolic disorder characterized by abnormal bone remodelling and a strong genetic component. Several genes are involved, with distinct genetic backgrounds correlating with specific clinical manifestations. Mutations in SQSTM1 are most commonly associated with classical PDB, while alterations in ZNF687 and PFN1 define rarer, more aggressive variants that may progress to bone...

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