Phosphaturic Mesenchymal Tumor: A Single Case Report Discussing Diagnostic and Therapeutic Challenges of Tumor-Induced Osteomalacia

Author:

Homlar Kelly1,Sullivan Brian T.,Sharma Suash2

Affiliation:

1. Orthopaedic Oncology and Total Joints & Reconstructive Surgery and

2. Department of Pathology, Section of Anatomic Pathology, Augusta University Medical College of Georgia, Augusta, GA.

Abstract

Abstract Phosphaturic mesenchymal tumor is a rare neoplasm that produces fibroblast growth factor 23 resulting in the paraneoplastic tumor-induced osteomalacia. Patients are typically diagnosed several years after the first signs of bone pain, fatigue, and weakness; the non-specific character of the symptoms often delays the diagnosis and curative surgical treatment. The following case report details a classic presentation of a phosphaturic mesenchymal tumor of mixed connective tissue type involving the right posterior tibialis muscle with erosion of the adjacent medial fibular cortex. The patient underwent a surgical resection and is currently asymptomatic. This report highlights the need for multidisciplinary diagnostic effort, effectiveness, of early surgical intervention, and emphasizes the importance of including this rare but damaging disease process in the differential diagnosis of osteomalacia.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Pathology and Forensic Medicine

Reference13 articles.

1. Characterization of FN1-FGFR1 and novel FN1-FGF1 fusion genes in a large series of phosphaturic mesenchymal tumors;Mod Pathol,2016

2. Human fibroblast growth factor-23 mutants suppress Na+-dependent phosphate co-transport activity and 1alpha,25-dihydroxyvitamin D3 production;J Biol Chem,2003

3. Tumor-induced osteomalacia: an up-to-date review;Curr Rheumatol Rep,2015

4. Phosphaturic mesenchymal tumour mixed connective tissue variant: report of three cases with unusual histological findings;Int J Clin Exp Pathol,2015

5. The phosphaturic mesenchymal tumor: why is definitive diagnosis and curative surgery often delayed?;Clin Orthop Relat Res,2013

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