背景:罕见的肿瘤诱导的骨软化症(TIO)通常导致骨痛,临床上脆性骨折和肌肉无力,这是由磷酸盐重吸收减少引起的,从而损害骨基质的矿化和自由能传递。尽管手术切除肿瘤是唯一确定的治疗方法,但术后患者的具体问题尚不清楚。这里,我们记录了1例TIO女性患者,其术后骨痛和肌肉痉挛更严重.Further,我们提出并讨论了我们对意外症状的解释.
方法:主要症状为全身疼痛和肌肉无力。患者还出现骨质疏松症和多发性骨折。
方法:血清成纤维细胞生长因子23(FGF23)水平升高和低磷血症提示诊断为TIO。使用68Ga-DOTATATE的正电子发射断层扫描(PET)/计算机断层扫描(CT)将肿瘤定位在左脚的背外侧。组织病理学检查证实了诊断。
方法:在诊断TIO和肿瘤定位后立即手术切除肿瘤。术后,继续补充碳酸钙治疗.
结果:手术后两天,血清FGF23水平降低至正常范围。手术五天后,I型前胶原和β-CrossLaps(β-CTx)的N端前肽显着增加。手术后一个月,患者Ⅰ型前胶原N端前肽和β-CTx水平明显降低,血清FGF23、磷酸盐和24h尿磷酸盐均在正常范围内。
结论:我们报告了一名女性患者,其表现为骨质疏松和骨折。PET/CT扫描后发现FGF23升高并诊断为TIO。手术切除肿瘤后,患者经历了更严重的骨痛和肌肉痉挛。积极的骨重建可能是症状的原因。进一步的研究将揭示这种异常骨代谢的具体机制。
BACKGROUND: Rare tumor-induced osteomalacia (TIO) usually resulted in bone pain, fragility fractures and muscle weakness in clinical, which is caused by the reduced phosphate reabsorption, thus impaired mineralization of the bone matrix and free energy transfer. The specific problems in postsurgical patients are obscure although surgical removal of the tumor is the only definitive treatment. Here, we documented a female TIO patient who suffered more severe bone pain and muscle spasms post-operation. Further, we presented and discussed our explanation for the unexpected symptoms.
METHODS: The main symptoms were whole-body pain and muscle weakness. The patient also presented with osteoporosis and multiple fractures.
METHODS: Elevated serum fibroblast growth factor 23 (FGF23) level and hypophosphatemia indicated the diagnosis of TIO. Positron emission tomography (PET)/computed tomography (CT) with 68 Ga-DOTATATE located the tumor in the dorsolateral part of the left foot. Histopathological examinations confirmed the diagnosis.
METHODS: The tumor was surgically removed immediately after the diagnosis of TIO and localization of the tumor. Postoperatively, calcium carbonate supplement treatment was continued.
RESULTS: Two days after surgery, the serum FGF23 level was decreased to the normal range. Five days after surgery, N-terminal propeptide of type I procollagen and β-CrossLaps (β-CTx) had a remarkable increase. A month after surgery, the patient N-terminal propeptide of type I procollagen and β-CTx levels were decreased obviously, and serum FGF23, phosphate and 24h urinary phosphate were in the normal range.
CONCLUSIONS: We report a female patient who presented with osteoporosis and fractures. She was found with an elevation of FGF23 and diagnosis with TIO after PET/CT scanning. After surgically removing the tumor, the patient experienced more severe bone pain and muscle spasms. Active bone remodeling might be the reason for the symptoms. Further study will reveal the specific mechanism for this abnormal bone metabolism.