Treatment and outcomes of tumor-induced osteomalacia associated with phosphaturic mesenchymal tumors: retrospective review of 12 patients

BMC Musculoskeletal Disorders

Research Article

Wei Li¹  Wei Deng¹  Hong Wang¹  Qing-yao Zuo¹  Jia Chen¹  Ai-min Cui²  Xiao-hui Niu³  Bao-yue Liu⁴  Yu-hua You⁵  Yan-hong Huang⁶ 

[1] Department of Endocrinology, Beijing Jishuitan Hospital, Xicheng District, Xinjiekoudongjie No. 31, 100035, Beijing, China;Department of General Surgery, Jishuitan Hospital, Beijing, China;Department of Orthopaedic Oncology, Beijing Jishuitan Hospital, Beijing, China;Department of Pathology, Beijing Jishuitan Hospital, Beijing, China;Department of Radiology, Beijing Jishuitan Hospital, Beijing, China;Department of Rheumatology, Beijing Jishuitan Hospital, Beijing, China;

关键词: Oncogenic osteomalacia;    Hypophosphatemia;    Fractures;    Spontaneous;    Phosphaturic mesenchymal tumor;    Fibroblast growth factor 23;   

DOI  :  10.1186/s12891-017-1756-1

 received in 2017-03-07, accepted in 2017-09-07,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundTumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by severe hypophosphatemia and osteomalacia. Nonspecific symptoms make the diagnosis elusive. In addition, locating the responsible tumor(s) is challenging. The aim of this study was to investigate the clinical management and outcomes of TIO.MethodsThe clinical features, diagnostic procedures, treatment, and outcomes of 12 patients were reviewed retrospectively.ResultsThe cohort comprised six men and six women (mean age 45.5 ± 9.9 years, range 23–61 years). The mean duration of disease was 3.7 ± 2.6 years. All patients manifested progressive bone pain, muscle weakness, and/or difficulty walking. Serum phosphorus concentrations were low in all patients (mean 0.42 ± 0.12 mmol/L). Technetium-99m octreotide scintigraphy was performed in 11 patients and showed lesions in the right distal femur, left femoral head, and right tibial plateau, respectively, in three patients. Magnetic resonance imaging (MRI) was negative for lesions in one patient. Two patients underwent biopsies that showed negative histopathology. Two patients, at 2 years and 8 months, respectively, after having negative technetium-99m octreotide studies, underwent 18F–fluorodeoxyglucose positron emission tomography/computed tomography (CT), which revealed lesions in the sacrum and soft tissue of the left palm, respectively. One tumor was detected by CT and MRI. Overall, lesion sites were the head (two patients, 16.7%), thoracic and lumbar region (two, 16.7%), pelvis (three, 25%), lower limbs (four, 33.3%), and upper limbs (one, 8.3%). All patients underwent surgery, and histopathology showed phosphaturic mesenchymal tumors in each. Postoperatively, serum phosphorus concentrations normalized within 2–7 days in 11 patients. With follow-ups of 1–41 months, surgery was effective in 10 patients. One patient developed local recurrence and another had metastases.ConclusionsLocating tumors responsible for tumor-induced osteomalacia is often challenging. Although complete tumor resection confers a good prognosis in most patients, surveillance for recurrence and metastasis is necessary. Before surgery or when surgery is not indicated, oral phosphate can alleviate symptoms and metabolic imbalance.

【 授权许可】

CC BY   
© The Author(s). 2017