Department of Endocrinology and Metabolism, The Affiliated Hospital of Southwest Medical University, Luzhou, 646000, Sichuan, China.
Cardiovascular and Metabolic Diseases Key Laboratory of Luzhou, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, P.R. China.
BMC Endocr Disord. 2022 Jul 8;22(1):174. doi: 10.1186/s12902-022-01078-4.
Tumor-related osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by severe hypophosphatemia and osteomalacia. The diagnosis of TIO can be very difficult because of its nonspecific nature of clinical manifestations. Here we reported a case of young TIO patient with "painful knee joint with difficulty in moving" to improve the clinical diagnosis and treatment levels.
The patient's clinical features were consistent with TIO. A tumor was successfully located in left tibial by Ga-DOTATATE PET/CT, and then was surgically resected. Upon pathologic assessment, the tumor was diagnosed as phosphaturia stromal tumor (PMT) with positive Vim staining. After the surgery, serum phosphate level rapidly recovered and symptoms significantly improved.
TIO should be considered in patients with chronically hypophosphorus osteomalacia in the setting of no family history. Early removal of the responsible tumors is clinically essential for the treatment, and imaging examination is of great significance for tumor localization.
肿瘤相关性骨软化症（TIO）是一种罕见的副瘤综合征，其特征为严重的低磷血症和骨软化症。由于临床表现不具特异性，TIO 的诊断可能非常困难。在此，我们报告了一例年轻的 TIO 患者，其临床表现为“膝关节疼痛伴活动困难”，旨在提高临床诊断和治疗水平。
患者的临床特征符合 TIO。Ga-DOTATATE PET/CT 成功定位左侧胫骨肿瘤，随后行手术切除。病理评估诊断为磷酸盐尿基质瘤（PMT），免疫组化 Vim 染色阳性。术后，血清磷水平迅速恢复，症状明显改善。
对于无家族史的慢性低磷性骨软化症患者，应考虑 TIO。早期切除责任肿瘤对治疗至关重要，影像学检查对肿瘤定位具有重要意义。
