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Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by hypophosphatemia caused by excessive secretion of fibroblast growth factor-23 (FGF-23) by tumors. This leads to impaired bone mineralization and, ultimately, osteomalacia. The most common underlying cause is a phosphaturic mesenchymal tumor (PMT).

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Tumour in the dark: a challenging case of osteomalacia.

Oxf Med Case Reports

December 2024

Department of Chemical Pathology & Metabolic Diseases, University Hospitals of Leicester NHS Trust, Groby Road, Leicester LE39QP, United Kingdom.

Tumour-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a rare paraneoplastic syndrome mediated by the overproduction of phosphaturic hormone fibroblast growth factor 23. TIO is most commonly caused by mesenchymal tumours (PMTs), which are typically small, slow-growing and often undetectable on physical examination and conventional imaging techniques. Patients with TIO typically undergo a protracted period of diagnostic workup and medical treatment due to presentation with nonspecific symptoms and difficulty in localising the culprit tumour.

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Dysregulated FGF23 production is a demonstrated cause of hypophosphatemia and osteomalacia. Diseases associated with these conditions include phosphaturic mesenchymal tumor (PMT) causing tumor induced osteomalacia, various forms of rickets, and fibrous dysplasia (FD). Coexistence of 2 conditions that can increase FGF23 concentrations is rare.

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Objective: This study aims to report the application of 18F-AlF-NOTA-Octreotide PET/CT and 3D printing technology in the diagnosis and treatment of phosphaturic mesenchymal tumors (PMT) in patients with tumor-induced osteomalacia (TIO).

Case Presentation: A 68-year-old male patient (Case 1) was admitted to the Weifang People's Hospital in August 2022 with complaints of "persistent pain in the bilateral flank and lumbosacral region". 18F-AlF-NOTA-Octreotide PET/CT showed high octreotide expression in the left femoral region.

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Conventional high-grade osteosarcomas are characterized by aggressive radiologic features, cytologic pleomorphism, and complex genomics. However, rare examples of osteosarcomas remain challenging due to unusual histology, such as sclerosing or osteoblastoma-like features, which may require molecular confirmation of their complex genetic alterations. We have encountered such a case in a 17-year-old man, who presented with a third metatarsal sclerotic bone lesion, found incidentally in the work-up of a foot trauma.

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