Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan.
Osteoporosis Center, The University of Tokyo Hospital, Tokyo, Japan.
J Bone Miner Res. 2022 Aug;37(8):1479-1488. doi: 10.1002/jbmr.4620. Epub 2022 Jul 1.
Tumor-induced osteomalacia (TIO) is an acquired fibroblast growth factor 23 (FGF23)-related hypophosphatemic osteomalacia caused by phosphaturic mesenchymal tumors (PMTs) developed in the bone or soft tissue. Diagnostic delay should be addressed, and ideal techniques to localize PMTs and efficient treatment options should be explored to improve the outcomes of this rare disease. To clarify the detailed clinical course and outcomes of TIO patients, retrospective questionnaire surveys were conducted among physicians from the Japanese Society for Bone and Mineral Research (JSBMR) and the Japan Endocrine Society (JES). The primary survey collected the number of TIO patients between January 2007 and December 2018. The secondary survey aimed to obtain the detailed characteristics, laboratory data, and outcomes. Eighty-eight patients (52 males, mean: 52 years old) were included, and 24 patients were clinically diagnosed with TIO without localized PMTs. The median duration from the onset to detection of high FGF23 levels was 3.4 years, with 77 patients being initially misdiagnosed. Among the methods used to detect small, localized PMTs (≤10 mm), fluorine-18-fluorodeoxyglucose-positron emission tomography/computed tomography and somatostatin receptor scintigraphy were less sensitive than somatostatin receptor positron emission tomography/computed tomography (SRPET/CT). Systemic venous sampling (SVS) of FGF23 was performed in 53 patients; among them, SVS was considered useful for detecting localized PMTs in 45 patients with diverse tumor sizes. Finally, 45 patients achieved biochemical remission by surgery, 39 patients continued pharmaceutical treatment, including burosumab (11 patients), and four patients died. These results encouraged us to further increase the awareness of TIO and to improve the accessibility of SRPET/CT and SVS. Further evidence about the efficacy of new pharmaceutical treatments is awaited. © 2022 American Society for Bone and Mineral Research (ASBMR).
肿瘤相关性骨软化症（TIO）是一种由成纤维细胞生长因子 23（FGF23）相关的磷酸盐尿性骨软化症，由发生在骨或软组织中的磷酸盐尿性间叶肿瘤（PMTs）引起。应解决诊断延迟问题，并探索理想的定位 PMTs 的技术和有效的治疗方案，以改善这种罕见疾病的结局。为了阐明 TIO 患者的详细临床过程和结局，日本骨矿研究学会（JSBMR）和日本内分泌学会（JES）的医生进行了回顾性问卷调查。初次调查收集了 2007 年 1 月至 2018 年 12 月期间 TIO 患者的数量。二次调查旨在获取详细特征、实验室数据和结局。共纳入 88 例患者（52 例男性，平均年龄：52 岁），其中 24 例患者临床诊断为 TIO 但未发现局部 PMTs。从发病到发现高 FGF23 水平的中位时间为 3.4 年，77 例患者最初被误诊。在检测小的、局限性 PMTs（≤10mm）的方法中，氟-18-氟代脱氧葡萄糖正电子发射断层扫描/计算机断层扫描和生长抑素受体闪烁扫描的敏感性低于生长抑素受体正电子发射断层扫描/计算机断层扫描（SRPET/CT）。53 例患者进行了 FGF23 系统静脉取样（SVS）；其中，SVS 被认为对检测大小不一的局部 PMTs 有用，45 例患者的肿瘤定位。最后，45 例患者通过手术实现生化缓解，39 例患者继续药物治疗，包括布罗索尤单抗（11 例），4 例患者死亡。这些结果鼓励我们进一步提高对 TIO 的认识，并提高 SRPET/CT 和 SVS 的可及性。期待新药物治疗的疗效有更多证据。©2022 美国骨矿研究学会（ASBMR）。
