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Tumor-induced osteomalacia

Authors :
Salvatore Minisola
Seiji Fukumoto
Weibo Xia
Alessandro Corsi
Luciano Colangelo
Alfredo Scillitani
Jessica Pepe
Cristiana Cipriani
Rajesh V Thakker
Source :
Endocrine Reviews. 44:323-353
Publication Year :
2022
Publisher :
The Endocrine Society, 2022.

Abstract

Tumor-induced osteomalacia (TIO) is an ultrarare paraneoplastic syndrome due to overproduction of fibroblast growth factor 23 (FGF23), with profound effects on patient morbidity. TIO is an underdiagnosed disease, whose awareness should be increased among physicians for timely and proper management of patients. Symptoms reported by patients with TIO are usually nonspecific, thus rendering the diagnosis elusive, with an initial misdiagnosis rate of more than 95%. Biochemical features of TIO are represented by hypophosphatemia, increased or inappropriately normal levels of FGF23, and low to low normal circulating 1,25-dihydroxyvitamin D (1,25(OH)2D). Phosphaturic mesenchymal tumors are the pathological entities underlying TIO in most affected patients. There is now evidence that FN1-FGFR1 and FN1-FGF1 fusion genes are present in about half of tumors causing this paraneoplastic syndrome. Tumors causing TIO are small and grow slowly. They can occur in all parts of the body from head to toe with similar prevalence in soft tissue and bone. There are a number of functional and anatomical imaging techniques used for tumor localization; 68Ga DOTA-based technologies have better sensitivity. Surgery is the treatment of choice; several medical treatments are now available in case of inability to locate the tumor or in case of incomplete excision.

Details

ISSN :
19457189 and 0163769X
Volume :
44
Database :
OpenAIRE
Journal :
Endocrine Reviews
Accession number :
edsair.doi.dedup.....444d650ba09f2f24b1ee9118ec2aae5a
Full Text :
https://doi.org/10.1210/endrev/bnac026