肿瘤相关低磷软骨病3例报道并文献回顾

Tumor-induced osteomalacia: A report of 3 cases and literature review

  • 摘要: 目的 通过典型病例了解肿瘤相关低磷软骨病(tumor induced osteomalacia,TIO)的临床特点及诊疗方法,提高对此疾病的认识。 方法 报告我院2011 - 2017年诊治的3例TIO患者。病例1为17岁男性,表现为双下肢反复乏力、行走困难2年;病例2为60岁女性,表现为反复多关节疼痛2年余;病例3为63岁男性,表现为全身多发骨痛伴双下肢进行性乏力2年。生化检查均提示低磷血症,尿磷升高,碱性磷酸酶升高,肾小管重吸收磷率下降,影像学检查提示骨质疏松、假骨折。3例经常规18F-FDG标记的PET-CT检查,分别在左胸壁第5肋、右髋臼及右侧大腿半膜肌内发现肿瘤,病例3经过68Ga-DOTA-TATE-PET-CT核实。 结果 3例均手术切除肿瘤病理证实为磷酸盐尿性间叶组织肿瘤,其中病例1及病例3术后血磷均升至正常水平,乏力、活动障碍随之改善;病例2术后血磷一度升至正常,关节疼痛改善,7个月后血磷下降,复查PET-CT提示肿瘤原位复发,因手术部位困难,再次手术未缓解。 结论 对临床上表现为不明原因的乏力、骨痛,低血磷、尿磷异常升高、肾小管重吸收磷率下降的患者要高度怀疑TIO,PET-CT对于寻找全身病灶有效。

     

    Abstract: Objective To improve the understanding of tumor induced osteomalacia (TIO) through analyzing the clinical features, diagnosis and treatment of three cases with this disease. Methods Clinical data about three patients with TIO in our hospital from 2011 to 2017 were respectively analyzed. The first case was a 17-year-old male presented with weakness in both legs and difficulties in walk for 2 years. The second case was a 60-year-old female with recurrent arthralgia in several joints for more than 2 years. The third one was a 63-year-old male complained of weakness in both legs and bone pain for 2 years. All three patients showed hypophosphatemia, hyperphosphaturia, increased level of alkaline phosphates and decreased level of tubular reabsorbtion of phosphorus (TRP). And the imaging results showed osteoporosis and pseudo-fracture in these patients. The tumor was found by PETCT in all the three cases, and was proved by the new 68Ga-DOTA-TATE-PET CT in the third case. Results All the patients were treated with surgery and pathologically confirmed as phosphaturic mesenchymal tumors. The serum phosphorus gradually returned to normal after tumor resection in the first and the third case. As for the second case, the serum phosphorus once returned to normal after surgery. Seven months later, the tumor recurred in situ proved by PET-CT, which cannot be resected by surgery. Conclusion For the patients with bone pain, weakness, and hypophosphatemia, hyperphosphaturia, increased levels of alkaline phosphates, decreased levels of TRP, TIO should be included in the differential diagnosis. Full physical examination and imaging tests are needed to find the tumor, and PET-CT imaging plays an important role in diagnosis.

     

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