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A diagnostic marker for Paget disease

Giant Cell TumorPaget’s diseaseTumor predispositionZNF687 gene


The present invention relates to a new diagnostic marker for Paget’s disease of bone (PDB) and bone tumors associated therewith, such as Giant Cell Tumor (GCT). This marker is represented by the ZNF687 gene that, when mutated, is responsible for an aggressive form of PDB. If not treated, these PDB patients usually undergo the neoplastic degeneration.

Technical features

Paget’s disease of bone is a metabolic disorder characterized by focal abnormalities in bone remodeling, which typically causes deformity and increased bone size in one or more areas of the skeleton. In some cases, patients affected by Paget’s disease of bone incur into neoplastic degeneration of the affected bones (GCT), caused by uncontrolled proliferation of the spindle-shaped stromal cells. The CNR research group identified the gene responsible for the disease, and developed a diagnostic kit which is able to detect the presence of mutation in the ZNF687 gene in patients affected by Paget’s disease of bone. Through a common blood sample, it is possible to extract the DNA from the patient and then selectively amplify and sequence the causative gene.

Possible Applications

  • Diagnostic tool to help in unclear diagnosis;
  • Predictive tool to screen PDB patients predisposed to GCT development;
  • Prognostic marker to predict the course of PDB by measuring the protein level in the blood, in response to a therapeutic intervention.


  • Identification of PDB patients positive to ZNF687 mutation predisposed to GCT development;
  • PDB patients, positive for ZNF687 mutation, could receive a prompt pharmacological treatment;
  • The pharmacological treatment could prevent the development of Giant Cell Tumor of bone.