Lai Guoqiang, Zuo Wangsheng, Tang Runmin, Lu Zengbo, Shi Dehai
Department of Joint and Trauma Surgery, The Third Affiliated Hospital, Sun Yat-sen University, No. 600 Tianhe Road, Guangzhou 510630, China.
Department of Pathology, The Third Affiliated Hospital, Sun Yat-sen University, No. 600 Tianhe Road, Guangzhou 510630, China.
Bone Rep. 2024 Dec 31;24:101822. doi: 10.1016/j.bonr.2024.101822. eCollection 2025 Mar.
Phosphaturic mesenchymal tumor (PMT) is a rare benign mesenchymal tumor characterized by excessive secretion of fibroblast growth factor 23 (FGF23), leading to phosphate loss and systemic osteomalacia. Despite recent progress in PMT research, no consensus on diagnosis and treatment guidelines has been established. This case series describes the clinical and pathological features of six pathologically confirmed PMT patients treated at the Third Affiliated Hospital of Sun Yat-sen University from 2010 to 2024, aiming to provide new insights for the management of this condition. The patients, consisting of three males and three females with an average age of 44 years and follow-up periods of 0.5 to 4.5 years, presented primarily with muscle pain and lower limb weakness. One patient experienced loose teeth, and two had palpable, painless masses. One case developed hyperphosphatemia, tertiary hyperparathyroidism, and renal impairment after prolonged phosphate supplementation. Tumor localization was achieved using 18F-FDG or 68Ga-DOTATATE Positron Emission Tomography-Computed Tomography(PET/CT) and MRI, followed by complete surgical resection. Pathological examination confirmed PMT, and postoperative recovery was marked by significant symptom relief and normalization of serum phosphate levels. Two patients experienced recurrence within three years but showed no further recurrence following repeat surgery by the last follow-up. The diagnosis of PMT is challenging and may take years, potentially leading to complications due to inadequate treatment. Complete tumor resection remains the primary treatment, generally resulting in a favorable prognosis; however, long-term monitoring is essential to detect potential recurrences and initiate timely interventions.
磷酸尿性间质性肿瘤(PMT)是一种罕见的良性间质性肿瘤,其特征是成纤维细胞生长因子23(FGF23)分泌过多,导致磷酸盐丢失和全身性骨软化症。尽管PMT研究最近取得了进展,但尚未就诊断和治疗指南达成共识。本病例系列描述了2010年至2024年在中山大学附属第三医院接受治疗的6例经病理证实的PMT患者的临床和病理特征,旨在为该病的管理提供新的见解。这些患者包括3名男性和3名女性,平均年龄44岁,随访时间为0.5至4.5年,主要表现为肌肉疼痛和下肢无力。1例患者出现牙齿松动,2例可触及无痛肿块。1例患者在长期补充磷酸盐后出现高磷血症、三发性甲状旁腺功能亢进和肾功能损害。使用18F-FDG或68Ga-DOTATATE正电子发射断层扫描-计算机断层扫描(PET/CT)和MRI进行肿瘤定位,随后进行完整的手术切除。病理检查证实为PMT,术后恢复表现为症状明显缓解和血清磷酸盐水平正常化。2例患者在3年内复发,但在最后一次随访时再次手术后未再复发。PMT的诊断具有挑战性,可能需要数年时间,由于治疗不足可能导致并发症。完整的肿瘤切除仍然是主要治疗方法,通常预后良好;然而,长期监测对于检测潜在复发并及时进行干预至关重要。