Successful Resection of FGF-23-Producing Tumor Resolves Severe Tumour-Induced Osteomalacia in a 40s Male
Background
Tumour-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by renal phosphate wasting, often caused by Phosphaturic Mesenchymal Tumours (PMTs). These tumors overproduce fibroblast growth factor-23 (FGF-23), a hormone that inhibits renal phosphate reabsorption and vitamin D activation, leading to severe hypophosphatemia and bone demineralization. Diagnosing PMTs is a significant challenge due to their rarity, non-specific symptoms, and varied histological appearance, often resulting in prolonged morbidity and delayed treatment for affected patients.
Study Design
This case report details a male patient in his late forties presenting with generalised body ache, weakness, and difficulty in walking for 3 years. Initial biochemical investigations revealed increased renal phosphate wasting. Functional imaging, specifically a somatostatin receptor-expressing lesion scan, identified a suspicious lesion in the distal epiphysis of the left tibia. A subsequent CT scan was performed to precisely localize the PMT, which was then resected en bloc. Postoperatively, the patient received oral phosphate and vitamin D supplementation.
Results
Biochemical analysis confirmed significant renal phosphate wasting, consistent with tumour-induced osteomalacia. Functional imaging successfully pinpointed a somatostatin receptor-expressing lesion in the left tibia, which was subsequently confirmed as a Phosphaturic Mesenchymal Tumour (PMT) via CT scan and histological examination post-resection. The surgical removal of the tumor was critical for patient recovery. Post-operative management included oral phosphate and vitamin D supplementation. > The patient achieved complete recovery from symptoms and normalization of biochemical parameters at 1-year follow-up, demonstrating the curative potential of complete tumor resection. This outcome underscores the importance of accurate diagnosis and timely intervention in such cases.
Key Findings
- A 40s male presented with 3 years of body ache, weakness, and difficulty walking due to tumour-induced osteomalacia.
- Biochemical tests confirmed increased renal phosphate wasting, indicative of FGF-23 excess.
- Functional imaging (
somatostatin receptor-expressing lesionscan) andCT scanprecisely located a Phosphaturic Mesenchymal Tumour (PMT) in the left tibia. - En bloc surgical resection of the PMT was performed.
- Patient achieved complete recovery and symptom resolution at 1-year follow-up with oral phosphate and vitamin D supplementation.
Why It Matters
This case highlights the critical importance of considering Phosphaturic Mesenchymal Tumours (PMTs) in the differential diagnosis for patients presenting with unexplained osteomalacia and renal phosphate wasting. The successful identification and complete surgical resection of the tumor led to a full recovery, emphasizing that early and accurate diagnosis is paramount for effective treatment. This case also underscores the utility of functional imaging, such as somatostatin receptor-expressing lesion scans, in localizing these elusive tumors. The current lack of established guidelines for PMT diagnosis and treatment means that individual case reports like this contribute valuable insights towards streamlining future management protocols and improving patient outcomes.
tumour-induced-osteomalacia
osteomalacia
phosphaturic-mesenchymal-tumor
fgf-23
case-report
bone-neoplasms