Law Lauren Ka-Po, O'Connell John, Lee Andrew, Ong Sharon
Medicine, Memorial University of Newfoundland Faculty of Medicine, St. John's, Newfoundland and Labrador, Canada.
Pathology, Fraser Health Authority, Surrey, British Columbia, Canada.
BMJ Case Rep. 2025 May 22;18(5):e263622. doi: 10.1136/bcr-2024-263622.
Phosphaturic mesenchymal tumours (PMTs) are rare neoplasms that secrete fibroblast growth factor 23 (FGF23), a hormone that disrupts phosphate homeostasis and induces tumour-induced osteomalacia (TIO). This condition causes hypophosphataemia, bone pain, fractures and musculoskeletal weakness. Due to the non-specific nature of these symptoms, TIO is often misdiagnosed with treatment delays. Surgical resection of PMTs is curative with rapid normalisation of serum phosphorus and full symptom resolution. PMTs are often located in the extremities and axial skeleton but can also occur in less common areas such as the intrathoracic region. We report a case of an intrathoracic PMT in a young woman who suffered for over 2 years without a diagnosis. The PMT was identified on CT, MRI and fluorodeoxyglucose-positron emission tomography and confirmed by histopathology. The tumour was excised via combined video-assisted thoracoscopic surgery and posterior thoracic resection. Within 6 months, the patient experienced complete symptom resolution and normalised serum levels.
促磷酸盐尿性间叶肿瘤（PMTs）是一种罕见的肿瘤，可分泌成纤维细胞生长因子23（FGF23），该激素会破坏磷酸盐稳态并诱发肿瘤性骨软化症（TIO）。这种情况会导致低磷血症、骨痛、骨折和肌肉骨骼无力。由于这些症状不具有特异性，TIO常常被误诊，导致治疗延误。手术切除PMTs可治愈该病，血清磷迅速恢复正常，症状完全缓解。PMTs通常位于四肢和中轴骨骼，但也可能出现在胸腔内等不太常见的部位。我们报告一例年轻女性胸腔内PMT病例，该患者患病超过2年仍未确诊。通过CT、MRI和氟脱氧葡萄糖正电子发射断层扫描发现了该PMT，并经组织病理学证实。通过胸腔镜辅助联合手术和后胸壁切除术切除了肿瘤。6个月内，患者症状完全缓解，血清水平恢复正常。
