Main Article Content
Background: Oncogenic osteomalacia is a rare paraneoplastic syndrome, with only about 100 reported cases in the literature. It is characterized by renal phosphate wasting, hypophosphatemia, low functional vitamin D, normocalcemia, normal PTH, and increased levels of alkaline phosphatase. The majority of oncogenic osteomalacia is usually caused by phosphaturic mesenchymal tumors of mixed connective tissue.
Case Description: In this case report, the authors present a case of oncogenic osteomalacia in a patient who initially presented with hip pain for bilateral femoral head osteonecrosis and was noted to have multiple insufficiency fractures of unknown cause. The patient was eventually worked up with a PET/CT scan which showed a 2cm tumor in his right proximal femur. A core biopsy of this lesion revealed it was a mesenchymal tumor. Given the patient’s osteonecrosis of the bilateral proximal femurs, we chose to treat him with a right total hip arthroplasty. As part of this surgery requires making a femoral neck cut and removing the head and neck of the femur, the femoral lesion was completely excised, and this led to resolution of his hypophosphatemia, and improvement in his symptoms.
Literature Review: There have been only three case reports of a similar lesion in the proximal femur causing oncogenic osteomalacia in the literature, and each was treated differently with varying outcomes.
Clinical Relevance: Although an extremely rare disease, clinicians and pathologists should be aware of oncogenic osteomalacia and phosphaturic mesenchymal tumors as a cause of unexplained insufficiency fractures in patients with hypophosphatemia.
The Medical Research Archives grants authors the right to publish and reproduce the unrevised contribution in whole or in part at any time and in any form for any scholarly non-commercial purpose with the condition that all publications of the contribution include a full citation to the journal as published by the Medical Research Archives.
2. Beech, T. J., A. Rokade, N. Gittoes, and A. P. Johnson. "A Haemangiopericytoma of the Ethmoid Sinus Causing Oncogenic Osteomalacia: A Case Report and Review of the Literature." [In eng]. Int J Oral Maxillofac Surg 36, no. 10 (Oct 2007): 956-8.
3. Carpenter, T. O. "Oncogenic Osteomalacia--a Complex Dance of Factors." [In eng]. N Engl J Med 348, no. 17 (Apr 24 2003): 1705-8.
4. Cheung, F. M., L. Ma, W. C. Wu, T. H. Siu, P. T. Choi, and Y. P. Tai. "Oncogenic Osteomalacia Associated with an Occult Phosphaturic Mesenchymal Tumour: Clinico-Radiologico-Pathological Correlation and Ultrastructural Studies." [In eng]. Hong Kong Med J 12, no. 4 (Aug 2006): 319-21.
5. Econs, M. J., and M. K. Drezner. "Tumor-Induced Osteomalacia--Unveiling a New Hormone." [In eng]. N Engl J Med 330, no. 23 (Jun 9 1994): 1679-81.
6. Felig, P, Frohman LA. Endocrinology and Metabolism. 4th ed. New York: McGraw-Hill, 2001.
7. Folpe, A. L., J. C. Fanburg-Smith, S. D. Billings, M. Bisceglia, F. Bertoni, J. Y. Cho, M. J. Econs, et al. "Most Osteomalacia-Associated Mesenchymal Tumors Are a Single Histopathologic Entity: An Analysis of 32 Cases and a Comprehensive Review of the Literature." [In eng]. Am J Surg Pathol 28, no. 1 (Jan 2004): 1-30.
8. Garcia, C. A., and R. P. Spencer. "Bone and in-111 Octreotide Imaging in Oncogenic Osteomalacia: A Case Report." [In eng]. Clin Nucl Med 27, no. 8 (Aug 2002): 582-3.
9. Guglielmi, G., M. Bisceglia, A. Scillitani, and A. L. Folpe. "Oncogenic Osteomalacia Due to Phosphaturic Mesenchymal Tumor of the Craniofacial Sinuses." [In eng]. Clin Cases Miner Bone Metab 8, no. 2 (May: 45-9.
10. Hesse, E., E. Moessinger, H. Rosenthal, F. Laenger, G. Brabant, T. Petrich, K. F. Gratz, and L. Bastian. "Oncogenic Osteomalacia: Exact Tumor Localization by Co-Registration of Positron Emission and Computed Tomography." [In eng]. J Bone Miner Res 22, no. 1 (Jan 2007): 158-62.
11. Hu, F. K., F. Yuan, C. Y. Jiang, D. W. Lv, B. B. Mao, Q. Zhang, Z. Q. Yuan, and Y. Wang. "Tumor-Induced Osteomalacia with Elevated Fibroblast Growth Factor 23: A Case of Phosphaturic Mesenchymal Tumor Mixed with Connective Tissue Variants and Review of the Literature." [In eng]. Chin J Cancer 30, no. 11 (Nov: 794-804.
12. Jan de Beur, S. M. "Tumor-Induced Osteomalacia." [In eng]. JAMA 294, no. 10 (Sep 14 2005): 1260-7.
13. Jonsson, K. B., R. Zahradnik, T. Larsson, K. E. White, T. Sugimoto, Y. Imanishi, T. Yamamoto, et al. "Fibroblast Growth Factor 23 in Oncogenic Osteomalacia and X-Linked Hypophosphatemia." [In eng]. N Engl J Med 348, no. 17 (Apr 24 2003): 1656-63.
14. Kenealy, H., I. Holdaway, and A. Grey. "Occult Nasal Sinus Tumours Causing Oncogenic Osteomalacia." [In eng]. Eur J Intern Med 19, no. 7 (Nov 2008): 516-9.
15. Larsen PR, Kronenberg HM, Melmed S, Polonsky KS. Endocrinology. 10th ed. Philadelphia: Saunders, 2003.
16. Mc, Cance Ra. "Osteomalacia with Looser's Nodes (Milkman's Syndrome) Due to a Raised Resistance to Vitamin D Acquired About the Age of 15 Years." [In eng]. Q J Med 16, no. 61 (Jan 1947): 33-46.
17. Ozawa, J. C., A. F. de Paiva, J. D. de Prospero, O. Monte, N. M. Scalissi, and S. S. Maeda. "Mesenchymal Tumor in the Calcaneus with Oncogenic Osteomalacia: A Case Report." [In eng]. J Clin Oncol 29, no. 1 (Jan 1: e6-8.
18. Park, Y. K., K. K. Unni, J. W. Beabout, and S. F. Hodgson. "Oncogenic Osteomalacia: A Clinicopathologic Study of 17 Bone Lesions." [In eng]. J Korean Med Sci 9, no. 4 (Aug 1994): 289-98.
19. Perwad, F., M. Y. Zhang, H. S. Tenenhouse, and A. A. Portale. "Fibroblast Growth Factor 23 Impairs Phosphorus and Vitamin D Metabolism in Vivo and Suppresses 25-Hydroxyvitamin D-1alpha-Hydroxylase Expression in Vitro." [In eng]. Am J Physiol Renal Physiol 293, no. 5 (Nov 2007): F1577-83.
20. Ramon, I., P. Kleynen, J. J. Body, and R. Karmali. "Fibroblast Growth Factor 23 and Its Role in Phosphate Homeostasis." [In eng]. Eur J Endocrinol 162, no. 1 (Jan: 1-10.
21. Sahin, M., T. Basoglu, S. Albayrak, F. Canbaz, and O. Yapici. "Pentavalent Technetium-99m Dmsa Uptake in Pseudofractures of Osteomalacia." [In eng]. Clin Nucl Med 26, no. 1 (Jan 2001): 62-4.
22. Schapira, D., O. Ben Izhak, A. Nachtigal, A. Burstein, R. B. Shalom, I. Shagrawi, and L. A. Best. "Tumor-Induced Osteomalacia." [In eng]. Semin Arthritis Rheum 25, no. 1 (Aug 1995): 35-46.
23. Seijas, R., O. Ares, J. Sierra, and M. Perez-Dominguez. "Oncogenic Osteomalacia: Two Case Reports with Surprisingly Different Outcomes." [In eng]. Arch Orthop Trauma Surg 129, no. 4 (Apr 2009): 533-9.
24. Seufert, J., K. Ebert, J. Muller, J. Eulert, C. Hendrich, E. Werner, N. Schuuze, et al. "Octreotide Therapy for Tumor-Induced Osteomalacia." [In eng]. N Engl J Med 345, no. 26 (Dec 27 2001): 1883-8.
25. Shimada, T., S. Mizutani, T. Muto, T. Yoneya, R. Hino, S. Takeda, Y. Takeuchi, et al. "Cloning and Characterization of Fgf23 as a Causative Factor of Tumor-Induced Osteomalacia." [In eng]. Proc Natl Acad Sci U S A 98, no. 11 (May 22 2001): 6500-5.
26. Stewart, I., C. Roddie, A. Gill, A. Clarkson, M. Mirams, L. Coyle, C. Ward, et al. "Elevated Serum Fgf23 Concentrations in Plasma Cell Dyscrasias." [In eng]. Bone 39, no. 2 (Aug 2006): 369-76.
27. Takeuchi, Y., H. Suzuki, S. Ogura, R. Imai, Y. Yamazaki, T. Yamashita, Y. Miyamoto, et al. "Venous Sampling for Fibroblast Growth Factor-23 Confirms Preoperative Diagnosis of Tumor-Induced Osteomalacia." [In eng]. J Clin Endocrinol Metab 89, no. 8 (Aug 2004): 3979-82.
28. Zimering, M. B., F. A. Caldarella, K. E. White, and M. J. Econs. "Persistent Tumor-Induced Osteomalacia Confirmed by Elevated Postoperative Levels of Serum Fibroblast Growth Factor-23 and 5-Year Follow-up of Bone Density Changes." [In eng]. Endocr Pract 11, no. 2 (Mar-Apr 2005): 108-14.