Diagnosis and management of tumor-induced osteomalacia: a single center experience

Endocrine. 2023 Nov;82(2):427-434. doi: 10.1007/s12020-023-03450-3. Epub 2023 Jul 22.

Abstract

Purpose: The aim of this study is to review the clinical and laboratory characteristics, diagnostic and treatment modalities of tumor-induced osteomalacia (TIO) cases managed in a single center.

Material methods: Demographic and clinical features, biochemical findings, diagnostic procedures, treatment modalities, and outcomes of nine patients who had the diagnosis of TIO were reviewed retrospectively.

Results: Mean age of the study group (F/M: 4/5) was 45.8 ± 10.8 years, and mean time from the onset of symptoms to diagnosis was 4.7 ± 2.8 years. The clinical manifestations were muscle weakness and difficulty in walking (8/9), hip pain (3/9), multiple fractures (2/9), stress fracture (2/9). Mean plasma phosphorus concentration was 1.28 ± 0.4 mg/dl at presentation. We performed radionuclide imaging modalities (18F-FDG PET/CT, Ga68-DOTATATE PET/CT, octreotide scintigraphy) in seven of nine patients, and tumor was detected in all. Lower extremity (n = 6; %67), head region (n = 2; %22) and thorax (n = 1; %11) were the tumor locations of our cases. Eight patients underwent surgery and remission was achieved postoperatively in all of the operated patients and plasma phosphorus level normalized in 4 ± 2 days. Pathological examination revealed mesenchymal tumors with different subtypes. Recurrence occurred in three patients at 13 ± 10.5 months after the first surgery. Two patients were reoperated and radiotherapy was also performed in one of them.

Conclusion: Hypophosphatemia necessitates careful evaluation for the etiology. TIO is one of the important causes of adult-onset hypophosphatemic osteomalacia. Diagnosis of TIO is essential because the laboratory and clinical findings resolve after appropriate treatment.

Keywords: Fibroblast growth factor 23; Hypophosphatemia; Phosphaturic mesenchymal tumor; Tumor-induced osteomalacia.

MeSH terms

  • Adult
  • Humans
  • Hypophosphatemia* / etiology
  • Hypophosphatemia* / therapy
  • Middle Aged
  • Neoplasms, Connective Tissue* / diagnostic imaging
  • Neoplasms, Connective Tissue* / etiology
  • Osteomalacia* / etiology
  • Osteomalacia* / therapy
  • Paraneoplastic Syndromes* / diagnosis
  • Paraneoplastic Syndromes* / etiology
  • Paraneoplastic Syndromes* / therapy
  • Phosphorus
  • Positron Emission Tomography Computed Tomography
  • Retrospective Studies

Substances

  • Phosphorus

Supplementary concepts

  • Oncogenic osteomalacia