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Background <p>Primary tumor-induced osteomalacia (PTIO), a paraneoplastic syndrome, is caused by typically benign mesenchymal tumors that secrete fi broblast growth factor 23 (FGF23). This hormone disrupts vitamin D synthesis and phosphate metabolism, manifesting as bone pain, muscle weakness, fractures, hypophosphatemia, and low vitamin D due to renal phosphate wasting. Patients often face delayed diagnosis due to vague symptoms mimicking other conditions and challenges in locating small tumors.</p> Methods <p>This case series reports four PTIO cases managed at a single Indian institute. Diagnosis involved biochemical tests (elevated FGF23, low TmP/GFR), functional imaging (68Ga-DOTANOC PET-CT, FDG PET), and anatomical imaging(MRI, CT). Tumors were resected with wide margins; histopathology confirmed phosphaturic mesenchymal tumors.</p> Results <p>Tumor locations included anteroinferior iliac spine, proximal humerus, pectineus muscle, and proximal tibia. All patients achieved 100% functional recovery at 1-year follow-up, with normalization of phosphate levels and independence from supplementation (except one initial recurrence in case 4, successfully revised). Mean diagnostic delay was 4 years; post-resection complications were minimal.</p> Conclusions <p>This case series demonstrates excellent long-term outcomes of surgical resection in PTIO, and emphasizes on high index of suspicion, multimodality imaging, and wide margin excision. This series bridges gaps in Indian data on rare PTIO, advocating early detection to reduce morbidity.</p>

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Tumor-Induced Osteomalacia: Clinical Presentation, Evaluation, and Surgical Management of a Rare Paraneoplastic Syndrome—A Case Series

  • 期刊论文

  • 发表日期：

    2026年5月6日

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  • Ujjwala Raina,
  • Pulak Sharma,
  • Himanshu J. Ashtankar,
  • Lyakat Khan,
  • Akash Yadav

摘要

Background

Primary tumor-induced osteomalacia (PTIO), a paraneoplastic syndrome, is caused by typically benign mesenchymal tumors that secrete fi broblast growth factor 23 (FGF23). This hormone disrupts vitamin D synthesis and phosphate metabolism, manifesting as bone pain, muscle weakness, fractures, hypophosphatemia, and low vitamin D due to renal phosphate wasting. Patients often face delayed diagnosis due to vague symptoms mimicking other conditions and challenges in locating small tumors.

Methods

This case series reports four PTIO cases managed at a single Indian institute. Diagnosis involved biochemical tests (elevated FGF23, low TmP/GFR), functional imaging (68Ga-DOTANOC PET-CT, FDG PET), and anatomical imaging(MRI, CT). Tumors were resected with wide margins; histopathology confirmed phosphaturic mesenchymal tumors.

Results

Tumor locations included anteroinferior iliac spine, proximal humerus, pectineus muscle, and proximal tibia. All patients achieved 100% functional recovery at 1-year follow-up, with normalization of phosphate levels and independence from supplementation (except one initial recurrence in case 4, successfully revised). Mean diagnostic delay was 4 years; post-resection complications were minimal.

Conclusions

This case series demonstrates excellent long-term outcomes of surgical resection in PTIO, and emphasizes on high index of suspicion, multimodality imaging, and wide margin excision. This series bridges gaps in Indian data on rare PTIO, advocating early detection to reduce morbidity.