Oncogenic Osteomalacia: Challenges in Diagnosis

Indian J Surg Oncol. 2023 Sep;14(3):583-588. doi: 10.1007/s13193-021-01474-7. Epub 2022 Jan 8.

Abstract

To report a case of osteomalacia induced by a mesenchymal tumour in the head and neck region, in view of its rarity and classical late diagnosis. To review the literature on the usage of fluorodeoxyglucose-positron emission tomography-computed tomography (FDG PET-CT) and octreotide scanning in the localisation of the culprit tumour. An elderly male presented with a 7-year history of chronic muscle pain and weakness, to the extent of functional disability. FDG PET-CT was done which showed uptake in the region of the right anterior ethmoids. Endoscopic excision of the mass was done. However, the patient did not improve significantly. Subsequently, a DOTA-1-NaI3-octreotide (DOTANOC) scan was done which revealed a tumour in the region of the right medial rectus, excision of which was done. This time, the patient improved clinically and biochemically. The histopathology was phosphaturic mesenchymal tumour. A steady but definitive symptomatic improvement was noted in the postoperative period along with reversal of the deranged biochemical parameters, confirming the diagnosis of oncogenic osteomalacia. Octreotide-based PET-CT seems to be the most sensitive imaging modality in localising the tumours that cause oncogenic osteomalacia. However, FDG-based PET-CT still would be a good choice in centres where SSTR-based imaging facilities are not available.

Keywords: FDG PET CT; Octreotide scan; Oncogenic osteomalacia; Phosphaturic mesenchymal tumour; Tumour-induced osteomalacia.