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ID 117670
Title Alternative
Tumor-induced osteomalacia
Author
Minisola, Salvatore Sapienza University of Rome
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
Keywords
Fibroblast growth factor
phosphaturic mesenchymal tumors
osteomalacia
fracture
DOTA based imaging
burosumab
Content Type
Journal Article
Description
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.
Journal Title
Endocrine Reviews
ISSN
0163769X
19457189
NCID
AA00180021
Publisher
Endocrine Society|Oxford University Press
Start Page
bnac026
Published Date
2022-11-03
Remark
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, MD, Seiji FUKUMOTO, MD, PhD, Weibo XIA, MD, Alessandro CORSI, MD, PhD, Luciano COLANGELO, Alfredo SCILLITANI, MD, Jessica PEPE, MD, PhD, Cristiana CIPRIANI, MD, PhD, Rajesh V THAKKER, ScD, TUMOR-INDUCED OSTEOMALACIA: A COMPREHENSIVE REVIEW, Endocrine Reviews, 2022;, bnac026 is available online at: https://doi.org/10.1210/endrev/bnac026.
論文本文は2023-11-03以降公開予定
EDB ID
DOI (Published Version)
URL ( Publisher's Version )
language
eng
TextVersion
その他
departments
Institute of Advanced Medical Sciences