Osteosarcoma in Paget's disease of bone.

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Abstract

[Indexed for MEDLINE] 20. Eur J Endocrinol. 2025 Sep 30;193(4):R43-R49. doi: 10.1093/ejendo/lvaf202. Latest developments in Paget's disease of bone. Ralston SH(1). Author information: (1)Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom. Paget's disease of bone is characterised by focal increases in osteoclastic bone resorption coupled to increased but disorganised bone formation. It is a relatively rare disease affecting up to 1% of individuals in the United Kingdom, but many cases are not diagnosed clinically. The most common presentation is with musculoskeletal pain which in some cases is due to increased bone turnover, but which can also be due to complications such as bone deformity, nerve compression syndromes and osteoarthritis. Predisposition to Paget's disease is regulated by pathogenic variants in or close to genes that regulate osteoclast differentiation and function. The most important of these is SQSTM1 which encodes p62-a signalling protein in the NFκB pathway. Environmental factors also influence susceptibility to PDB and disease severity, but the mechanisms are not well understood. Medical management is based on the use of bisphosphonates to supress the abnormal bone turnover and are indicated for the treatment of bone pain associated with the disease. Of the bisphosphonates currently available, intravenous zoledronic acid is the treatment of choice. The diagnosis can usually be made by typical features on X-ray and radionuclide bone scan. Genetic testing for pathogenic variants in the SQSTM1 gene in people with a family history of Paget's disease has been used to detect people with early asymptomatic disease, and in these individuals, prophylactic treatment with zoledronic acid favourably affects disease progression. © The Author(s) 2025. Published by Oxford University Press on behalf of European Society of Endocrinology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com. DOI: 10.1093/ejendo/lvaf202 PMCID: PMC12569606