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Article

ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Oct 2020

Scotto di Carlo Federica, Pazzaglia Laura, Mumm Steven, Benassi Maria S, De Chiara Annarosaria, Franchi Alessandro, Parafioriti Antonina, Righi Alberto, Esposito Teresa, Whyte Michael P, Gianfrancesco Fernando

Abstract excerpt

Neoplastic transformation is a rare but serious complication of Paget's disease of bone (PDB), occurring in fewer than 1% of individuals with polyostotic disease. Their prognosis is poor, with less than 50% surviving 5 years. In 2016, the genetic alteration of giant cell tumor (GCT) complicating PDB was identified as a founder germline mutation (P937R) in the ZNF687 gene. However, the study population was...

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PMID: 32106343
DOI: 10.1002/jbmr.3993

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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