Minisola, Salvatore Sapienza University of Rome
福本, 誠二 Tokushima University 徳島大学 教育研究者総覧 KAKEN研究者をさがす
Xia, Weibo Chinese Academy of Medical Sciences & Peking Union Medical College
Corsi, Alessandro Sapienza University of Rome
Colangelo, Luciano Sapienza University of Rome
Scillitani, Alfredo Istituto di Ricovero e Cura a Carattere Scientifico
Pepe, Jessica Sapienza University of Rome
Cipriani, Cristiana Sapienza University of Rome
Thakker, Rajesh V. University of Oxford|Churchill Hospital
Fibroblast growth factor
phosphaturic mesenchymal tumors
DOTA based imaging
Tumor-induced osteomalacia (TIO) is an ultrarare paraneoplastic syndrome due to overproduction of fibroblast growth factor 23 (FGF23), with profound effects on the morbidity of the patients affected. TIO is an underdiagnosed disease, whose awareness should be increased among physicians, for timely and proper management of the patients. Symptoms reported by patients with TIO are usually nonspecific thus rendering the diagnosis elusive, with an initial misdiagnosis rate of >95%. Biochemical features of TIO are represented by hypophosphatemia, increased or inappropriately normal levels of FGF23 and low to low normal circulating 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 often of small size 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 utilized for tumor localization; 68Ga DOTA based technologies have the 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.
Endocrine Society|Oxford University Press
This is a pre-copyedited, author-produced version of an article accepted for publication in Endocrine Reviews following peer review. The version of record Salvatore Minisola, Seiji Fukumoto, Weibo Xia, Alessandro Corsi, Luciano Colangelo, Alfredo Scillitani, Jessica Pepe, Cristiana Cipriani, Rajesh V Thakker, Tumor-induced Osteomalacia: A Comprehensive Review, Endocrine Reviews, Volume 44, Issue 2, April 2023, Pages 323–353, is available online at: https://doi.org/10.1210/endrev/bnac026.