Tumour-induced osteomalacia

Salvatore Minisola, Munro Peacock, Seijii Fukumoto, Cristiana Cipriani, Jessica Pepe, Sri Harsha Tella, Michael T. Collins

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

Tumour-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a rare paraneoplastic disorder caused by tumours that secrete fibroblast growth factor 23 (FGF23). Owing to the role of FGF23 in renal phosphate handling and vitamin D synthesis, TIO is characterized by decreased renal tubular reabsorption of phosphate, by hypophosphataemia and by low levels of active vitamin D. Chronic hypophosphataemia ultimately results in osteomalacia (that is, inadequate bone mineralization). The diagnosis of TIO is usually suspected when serum phosphate levels are chronically low in the setting of bone pain, fragility fractures and muscle weakness. Locating the offending tumour can be very difficult, as the tumour is often very small and can be anywhere in the body. Surgical removal of the tumour is the only definitive treatment. When the tumour cannot be located or when complete resection is not possible, medical treatment with phosphate salts or active vitamin D is necessary. One of the most promising emerging treatments for unresectable tumours that cause TIO is the anti-FGF23 monoclonal antibody KRN23. The recent identification of a fusion of fibronectin and fibroblast growth factor receptor 1 (FGFR1) as a molecular driver in some tumours not only sheds light on the pathophysiology of TIO but also opens the door to a better understanding of the transcription, translocation, post-translational modification and secretion of FGF23, as well as suggesting approaches to targeted therapy. Further study will reveal if the FGFR1 pathway is also involved in tumours that do not harbour the translocation.

Original languageEnglish (US)
Article number17044
JournalNature Reviews Disease Primers
Volume3
DOIs
StatePublished - Jul 13 2017

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Neoplasms
Phosphates
Receptor, Fibroblast Growth Factor, Type 1
Vitamin D
Physiologic Calcification
Osteomalacia
Oncogenic osteomalacia
Muscle Weakness
Therapeutics
Post Translational Protein Processing
Fibronectins
Salts
Kidney
Bone and Bones
Pain
fibroblast growth factor 23
Serum

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Minisola, S., Peacock, M., Fukumoto, S., Cipriani, C., Pepe, J., Tella, S. H., & Collins, M. T. (2017). Tumour-induced osteomalacia. Nature Reviews Disease Primers, 3, [17044]. https://doi.org/10.1038/nrdp.2017.44

Tumour-induced osteomalacia. / Minisola, Salvatore; Peacock, Munro; Fukumoto, Seijii; Cipriani, Cristiana; Pepe, Jessica; Tella, Sri Harsha; Collins, Michael T.

In: Nature Reviews Disease Primers, Vol. 3, 17044, 13.07.2017.

Research output: Contribution to journalArticle

Minisola, S, Peacock, M, Fukumoto, S, Cipriani, C, Pepe, J, Tella, SH & Collins, MT 2017, 'Tumour-induced osteomalacia', Nature Reviews Disease Primers, vol. 3, 17044. https://doi.org/10.1038/nrdp.2017.44
Minisola S, Peacock M, Fukumoto S, Cipriani C, Pepe J, Tella SH et al. Tumour-induced osteomalacia. Nature Reviews Disease Primers. 2017 Jul 13;3. 17044. https://doi.org/10.1038/nrdp.2017.44
Minisola, Salvatore ; Peacock, Munro ; Fukumoto, Seijii ; Cipriani, Cristiana ; Pepe, Jessica ; Tella, Sri Harsha ; Collins, Michael T. / Tumour-induced osteomalacia. In: Nature Reviews Disease Primers. 2017 ; Vol. 3.
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