Tumor-Induced Osteomalacia and Phosphaturic Mesenchymal Tumors

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic disorder in which small mesenchymal neoplasms secrete excessive amounts of fibroblast growth factor 23 (FGF23). Elevated FGF23 drives renal phosphate wasting and impairs conversion of vitamin D to its active form, culminating in chronic hypophosphataemia and defective bone mineralisation. Clinically, patients present with insidious bone pain, muscle weakness and fragility fractures. Phosphaturic mesenchymal tumours (PMTs) account for the majority of TIO cases and may arise in soft tissue or bone, often evading detection by conventional imaging. Although complete surgical resection is curative in most instances, anatomical complexity and low tumour burden frequently delay diagnosis by several years, compounding skeletal morbidity. Emerging targeted therapies, notably FGF23-blocking antibodies, show promise for unresectable or occult lesions. Heightened clinical awareness and integration of advanced functional imaging techniques are essential to reduce diagnostic latency and improve outcomes across diverse healthcare settings.

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Tumor-Induced Osteomalacia and Phosphaturic Mesenchymal Tumors publication trend

The graph below shows the total number of articles in tumor-induced osteomalacia and phosphaturic mesenchymal tumors across all publications each year (not limited to Nature Index journals).

Technical terms

Fibroblast Growth Factor 23 (FGF23): A hormone produced by bone cells and phosphaturic tumours that reduces renal phosphate reabsorption and suppresses active vitamin D synthesis.

Hypophosphataemia: Abnormally low levels of phosphate in the blood, leading to impaired bone mineralisation and muscle weakness.

Osteomalacia: A defect in bone mineralisation in adults, characterised by softening of the skeleton and increased fracture risk.

Phosphaturic Mesenchymal Tumour (PMT): A rare neoplasm of mesenchymal origin that secretes FGF23, causing tumour-induced osteomalacia.

Positron Emission Tomography/Computed Tomography (PET/CT): A hybrid imaging technique combining metabolic and anatomical data to localise small, functional lesions such as PMTs.

References

1. 18F-AlF-NOTA-octreotide PET/CT in the localization of tumor-induced osteomalacia: case series and literature review. Frontiers in Endocrinology (2024).
2. Tumor-Induced Osteomalacia: A Systematic Clinical Review of 895 Cases. Calcified Tissue International (2022).
3. Global guidance for the recognition, diagnosis, and management of tumor‐induced osteomalacia. Journal of Internal Medicine (2022).