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The Phosphaturic Mesenchymal Tumor: Why is Definitive Diagnosis and Curative Surgery Often Delayed?

  • Clinical Research
  • Published:
Clinical Orthopaedics and Related Research®

Abstract

Background

Tumor-induced osteomalacia is a paraneoplastic syndrome resulting in renal phosphate wasting and decreased bone mineralization. Phosphaturic mesenchymal tumors represent a rare etiology of tumor-induced osteomalacia. Nonspecific symptoms of fatigue, bone pain, and musculoskeletal weakness make the diagnosis elusive and lead to a delay in surgical treatment.

Questions/purposes

In this case series, the following three questions were asked: (1) How do the clinical presentation and features of phosphaturic mesenchymal tumors delay the diagnosis? (2) What is the clinical course after surgical treatment of phosphaturic mesenchymal tumors? (3) How frequently do phosphaturic mesenchymal tumors recur and are there factors associated with recurrence?

Methods

This study retrospectively reviewed the cases of five adults diagnosed and treated for phosphaturic mesenchymal tumors. Patients were identified through an internal orthopaedic oncology database with clinical, surgical, and histologic data obtained through a systematic chart review.

Results

Five patients presented with a long-standing history of osteomalacia, generalized fatigue, pain, and weakness before the diagnosis was reached at an average of 7.2 years (range, 2–12 years) after initial symptom onset. The diagnosis appeared to be delayed owing to the cryptic medical presentation, difficulty in locating tumor by imaging, and confirming histologic appearance. Two patients treated with wide surgical resection did not experience recurrence compared with three patients who did show recurrent signs and symptoms after marginal excision. A postoperative increase in fibroblast-derived growth factor-23 was associated with recurrent disease.

Conclusions

Although uncommon, the diagnosis of phosphaturic mesenchymal tumor should be considered in any patient who presents with hypophosphaturic osteomalacia and no other physiologic cause. Definitive treatment is early, wide surgical resection.

Level of Evidence

Level IV, therapeutic study. See the Instructions for Authors for a complete description of levels of evidence.

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Authors and Affiliations

  1. Department of Orthopaedic Surgery, Duke University Medical Centerm, 200 Trent Drive, Box 2923, Durham, NC, 27710, USA

    Cameron K. Ledford MD, Nicole A. Zelenski BS, Brian E. Brigman MD, PhD & William C. Eward DVM, MD

  2. Department of Pathology, Duke University Medical Centerm, 200 Trent Drive, Box 2923, Durham, NC, 27710, USA

    Diana M. Cardona MD

Authors
  1. Cameron K. Ledford MD
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  2. Nicole A. Zelenski BS
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  3. Diana M. Cardona MD
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  4. Brian E. Brigman MD, PhD
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  5. William C. Eward DVM, MD
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Corresponding author

Correspondence to Cameron K. Ledford MD.

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Each author certifies that he or she, or a member of his or her immediate family, has no funding or commercial associations (eg, consultancies, stock ownership, equity interest, patent/licensing arrangements, etc) that might pose a conflict of interest in connection with the submitted article.

All ICMJE Conflict of Interest Forms for authors and Clinical Orthopaedics and Related Research editors and board members are on file with the publication and can be viewed on request.

Each author certifies that his or her institution approved the human protocol for this investigation that all investigations were conducted in conformity with ethical principles of research, and that informed consent for participation in the study was obtained.

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Ledford, C.K., Zelenski, N.A., Cardona, D.M. et al. The Phosphaturic Mesenchymal Tumor: Why is Definitive Diagnosis and Curative Surgery Often Delayed?. Clin Orthop Relat Res 471, 3618–3625 (2013). https://doi.org/10.1007/s11999-013-3178-1

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  • DOI: https://doi.org/10.1007/s11999-013-3178-1

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