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Phosphaturic mesenchymal tumors: A pathological perspective.

Xianglin Mei1, Meiying Li2

  • 1Department of Pathology, The Second Hospital of Jilin University, Changchun, Jilin, China.

Pathology, Research and Practice
|September 30, 2025
PubMed
Summary

Phosphaturic mesenchymal tumors (PMTs) are rare neoplasms causing tumor-induced osteocalcin (TIO) syndrome. Early diagnosis and surgical resection are key for managing this condition and improving patient quality of life.

Keywords:
FGF23HypophosphatemiaPMTMECTPhosphaturic mesenchymal tumorTumor-induced osteomalacia

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Area of Science:

  • Oncology
  • Endocrinology
  • Pathology

Background:

  • Phosphaturic mesenchymal tumors (PMTs) are rare neoplasms linked to tumor-induced osteocalcin (TIO) syndrome.
  • TIO significantly impairs quality of life due to nonspecific clinical manifestations leading to diagnostic delays.

Purpose of the Study:

  • To review the clinical presentation, molecular pathogenesis, pathology, diagnosis, treatment, and prognosis of PMTs.
  • To highlight current challenges and future research directions for PMTs.

Main Methods:

  • Comprehensive literature review of PMTs.
  • Analysis of clinical, molecular, pathological, and imaging data.
  • Synthesis of diagnostic and therapeutic strategies.

Main Results:

  • PMTs exhibit characteristic molecular alterations like FN1::FGFR1 and KL rearrangements.
  • Tumor-secreted FGF23 disrupts phosphate homeostasis, causing hypophosphatemia and skeletal issues.
  • Advanced imaging and complete surgical resection are crucial for diagnosis and cure.

Conclusions:

  • PMTs present heterogeneous features, complicating diagnosis and malignancy criteria.
  • Further research is needed to address diagnostic challenges and define prognostic factors.
  • Multidisciplinary approaches are essential for optimal PMT management.