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Tumor-induced Osteomalacia: A Comprehensive Review
Salvatore Minisola1, Seiji Fukumoto2, Weibo Xia3
1Department of Clinical, Internal, Anaesthesiological and Cardiovascular Sciences, Sapienza University of Rome, Rome 00161, Italy.
Endocrine Reviews
|November 3, 2022
Summary
Tumor-induced osteomalacia (TIO) is a rare condition caused by excess fibroblast growth factor 23 (FGF23). Early diagnosis and surgical removal of the underlying phosphaturic mesenchymal tumor are crucial for patient recovery.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Tumor-induced osteomalacia (TIO) is an ultra-rare paraneoplastic syndrome characterized by FGF23 overproduction.
- It often presents with nonspecific symptoms, leading to a high misdiagnosis rate (>95%) and significant patient morbidity.
- Biochemical hallmarks include hypophosphatemia, abnormal FGF23 levels, and low vitamin D.
Approach:
- Discusses the diagnostic challenges and biochemical features of TIO.
- Highlights phosphaturic mesenchymal tumors as the underlying pathology, often associated with FN1-FGFR1 and FN1-FGF1 fusion genes.
- Reviews imaging techniques for tumor localization, emphasizing 68Ga DOTA-based technologies.
Key Points:
- TIO diagnosis requires increased physician awareness due to nonspecific symptoms.
- Tumors causing TIO are typically small, slow-growing, and can occur anywhere in the body.
- Effective tumor localization is critical for successful treatment.
Conclusions:
- Surgery is the primary treatment for TIO.
- Medical therapies are available for unresectable or incompletely excised tumors.
- Increased awareness and timely diagnosis are essential for managing TIO patients.
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