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FGF-23 transmitted tumor – induced hypophosphatemic osteomalacia: A rare case of a young woman with recurrent fractures and review of the literature
Journal of Bone Oncology ( IF 3.4 ) Pub Date : 2022-01-29 , DOI: 10.1016/j.jbo.2022.100413
Florian A Frank 1 , Lukas Gerber 2 , Alexander Cornelius 3 , Daniel Baumhoer 4 , Andreas H Krieg 5
Affiliation  

We present a case of tumor-induced osteomalacia (TIO) in a young woman of 22 years. The fibroblast growth factor 23 transmitting tumor in her left foot remained undetected for several years. She suffered several fractures including insufficiency fractures of both femoral necks requiring bilateral proximal femoral nailing. After phosphaturia was diagnosed any known genetic etiology was excluded. Even advanced imaging modalities were unable to detect the clinically silent tumor until an 68Ga-DOTA-TOC-PET/CT-scan revealed a mass with paraneoplastic activity in the left foot. Complete resection of the tumor proved to cure her condition after 9 years of uncertainty and suffering. Serum phosphate levels returned to normal within days.

After presentation of the case report, the current literature on published cases of TIO between 1956 and 2021 is summarized to emphasize the importance of an accurate and early diagnosis. Our case report aims to illustrate that a long latency period of diagnosis may be avoided utilizing the latest imaging techniques to spare affected patients from long treatment of symptoms instead of finding the underlying cause.



中文翻译:

FGF-23 传播肿瘤诱导的低磷性骨软化症:罕见的年轻女性复发性骨折病例及文献复习

我们介绍了一名22 岁的年轻女性患肿瘤诱导的骨软化症 (TIO)的病例。她左脚的成纤维细胞生长因子 23 传播肿瘤多年来一直未被发现。她遭受了几处骨折,包括需要双侧股骨近端钉固定的两个股骨颈的不全性骨折。在诊断出磷酸尿症后,排除了任何已知的遗传病因。在68 Ga-DOTA-TOC-PET/CT 扫描显示左脚有副肿瘤活动性肿块之前,即使是先进的成像方式也无法检测到临床上无症状的肿瘤。经过 9 年的不确定和痛苦,完全切除肿瘤证明治愈了她的病情。血清磷酸盐水平在几天内恢复正常。

在提交病例报告后,总结了目前关于 1956 年至 2021 年间已发表的TIO病例的文献,以强调准确和早期诊断的重要性。我们的病例报告旨在说明,利用最新的成像技术可以避免长时间的诊断潜伏期,使受影响的患者免于长期治疗症状,而不是找到根本原因。

更新日期:2022-02-06
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