Ambrogetti Robert, Taha Omer, Saeed Mohamed, Patel Prashanth, Rahman Faizanur
Department of Medicine, University Hospitals of Leicester NHS Trust, Infirmary Square, Leicester LE15WW, United Kingdom.
Department of Chemical Pathology & Metabolic Diseases, University Hospitals of Leicester NHS Trust, Groby Road, Leicester LE39QP, United Kingdom.
Oxf Med Case Reports. 2024 Dec 28;2024(12):omae159. doi: 10.1093/omcr/omae159. eCollection 2024 Dec.
Tumour-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a rare paraneoplastic syndrome mediated by the overproduction of phosphaturic hormone fibroblast growth factor 23. TIO is most commonly caused by mesenchymal tumours (PMTs), which are typically small, slow-growing and often undetectable on physical examination and conventional imaging techniques. Patients with TIO typically undergo a protracted period of diagnostic workup and medical treatment due to presentation with nonspecific symptoms and difficulty in localising the culprit tumour. During this period, ongoing surveillance is imperative as medical treatment can limit symptom progression, and tumour identification can provide definitive treatment. We report a case of TIO secondary to a PMT, which, despite biochemical diagnosis, medical treatment and serial imaging, took approximately ten years for tumour localisation.
肿瘤诱导的骨软化症（TIO），也称为致癌性骨软化症，是一种罕见的副肿瘤综合征，由磷酸调节素成纤维细胞生长因子23过度产生介导。TIO最常见由间充质肿瘤（PMTs）引起，这些肿瘤通常较小，生长缓慢，体格检查和传统成像技术往往难以检测到。由于出现非特异性症状且难以定位罪魁祸首肿瘤，TIO患者通常要经历漫长的诊断检查和治疗过程。在此期间，持续监测至关重要，因为医学治疗可以限制症状进展，而肿瘤识别可以提供确定性治疗。我们报告一例继发于PMT的TIO病例，尽管进行了生化诊断、医学治疗和系列成像，但肿瘤定位仍花了大约十年时间。
