Colazo Juan M, Thompson Reid C, Covington Natalie V, Dahir Kathryn M
Medical Scientist Training Program, Vanderbilt University Medical Center, 2nd Floor Eskind Biomedical Library and Learning Center, Vanderbilt University School of Medicine, 2209 Garland Avenue, Nashville, TN 37240, USA.
Department of Biomedical Engineering, Vanderbilt University, 2301 Vanderbilt Place, PMB351826, Nashville, TN 37235, USA.
Radiol Case Rep. 2020 Feb 25;15(5):492-497. doi: 10.1016/j.radcr.2020.01.039. eCollection 2020 May.
Tumor-induced osteomalacia (TIO) is a rare disease in which patients suffer from fractures and progressive disabling bone pain and muscle weakness. TIO is caused by the hypersecretion of Fibroblast Growth Factor 23 (FGF23) from rare neoplasms of mesenchymal origin. This case report describes a 29-year-old male with 2 years of low back/hip pain, gait changes, proximal muscle weakness, and multiple stress fractures. Bone densitometry was remarkable for severe osteoporosis, hypophosphatemia was seen on routine labs, and advanced labs demonstrated an "inappropriately normal" FGF23 level. A 68Ga-DOTATATE scan and MRI showed a 1.3 × 1.1 × 1.0 cm intracranial mass. The patient underwent tumor resection by Neurosurgery. Shortly after, laboratory levels normalized, and the patient's symptoms improved drastically. This case exemplifies the notion that TIO can be caused by FGF23 levels within normal limits, the role of 68-Ga DOTATATE imaging for establishing a diagnosis, and that these tumors can arise anywhere-even intracranially. We also review current surgical and nonsurgical treatment options, as well as emerging novel therapeutics.
肿瘤诱导的骨软化症（TIO）是一种罕见疾病，患者会出现骨折、进行性致残性骨痛和肌肉无力。TIO由间充质来源的罕见肿瘤分泌过多的成纤维细胞生长因子23（FGF23）引起。本病例报告描述了一名29岁男性，有2年的腰/髋部疼痛、步态改变、近端肌肉无力和多处应力性骨折。骨密度测定显示严重骨质疏松，常规实验室检查发现低磷血症，进一步检查显示FGF23水平“异常正常”。68Ga-DOTATATE扫描和MRI显示颅内有一个1.3×1.1×1.0 cm的肿块。患者接受了神经外科肿瘤切除术。术后不久，实验室指标恢复正常，患者症状大幅改善。该病例例证了TIO可由正常范围内的FGF23水平引起，68-Ga DOTATATE成像在确诊中的作用，以及这些肿瘤可发生在任何部位，甚至颅内。我们还回顾了当前的手术和非手术治疗选择以及新兴的新型疗法。
