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揭开颅底磷酸酶性间叶肿瘤的面纱:肿瘤诱导性骨软化症的一种罕见且可治疗的病因

Unmasking Skull Base Phosphaturic Mesenchymal Tumors: A Rare and Treatable Cause of Tumor-Induced Osteomalacia.

作者信息

Chithambaram Kalyana Sundaram, Keshri Amit, Preetam Chappity, Yadav Subhash, Hameed Nazrin, Sinha Mohit, Das Nidhin, Aqib Mohd, Kumar M S Arushi, Jaiswal Awadhesh Kumar, Gambhir Sanjay, Govindarajan Harrish, Manogaran Ravi Sankar

机构信息

Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

Department of ENT, All India Institute of Medical Sciences, Bhubaneswar, India.

出版信息

Indian J Otolaryngol Head Neck Surg. 2025 Jun;77(6):2252-2259. doi: 10.1007/s12070-025-05460-1. Epub 2025 Apr 23.

Abstract

Tumor-induced osteomalacia (TIO) is a rare syndrome caused by phosphaturic mesenchymal tumors that secrete substances, like FGF23, leading to phosphorus loss and osteomalacia. These tumors are often small and challenging to locate. Surgical excision is the primary treatment and usually results in symptomatic improvement. This report presents seven cases of skull base origin of these tumors to add to the existing literature. This retrospective study reviewed patients with phosphaturic mesenchymal tumors (PMT) who underwent surgical excision at a tertiary care institute from 2015 to 2023, focusing solely on tumors confined to the anterior or lateral skull base. The analysis included demographics, clinical features, biochemical and radiologic findings, tumor location, surgical details, and follow-up. The study included 7 patients (6 males, 1 female) with ages ranging from 40 to 65 years (mean age: 52 years). Common symptoms included lower back pain (70%), fractures (42%), difficulty walking (42%), and muscle weakness (28%). All patients showed hypophosphatemia, and elevated FGF23 levels were noted in 5 out of 7 patients (70%). Most tumors (86%) were in the anterior skull base, particularly in the ethmoid region. One patient had a tumor in the lateral skull base, confined to the mastoid. All patients underwent wide local excision via endoscopic and retromastoid approaches. Phosphaturic mesenchymal tumor-induced osteomalacia is a rare condition, with generalized nonspecific symptoms. Despite the challenging nature of the disease, surgical removal of the tumor can lead to a complete cure and significant symptom relief.

摘要

肿瘤诱导的骨软化症(TIO)是一种由分泌如FGF23等物质的致磷性间叶肿瘤引起的罕见综合征,导致磷丢失和骨软化症。这些肿瘤通常较小,定位具有挑战性。手术切除是主要治疗方法,通常可使症状改善。本报告介绍7例起源于颅底的此类肿瘤病例,以丰富现有文献。这项回顾性研究对2015年至2023年在一家三级医疗机构接受手术切除的致磷性间叶肿瘤(PMT)患者进行了回顾,仅关注局限于前颅底或侧颅底的肿瘤。分析内容包括人口统计学、临床特征、生化和影像学检查结果、肿瘤位置、手术细节及随访情况。该研究纳入了7例患者(6例男性,1例女性),年龄在40至65岁之间(平均年龄:52岁)。常见症状包括下背部疼痛(70%)、骨折(42%)、行走困难(42%)和肌肉无力(28%)。所有患者均表现为低磷血症,7例患者中有5例(70%)FGF23水平升高。大多数肿瘤(86%)位于前颅底,尤其是筛窦区域。1例患者的肿瘤位于侧颅底,局限于乳突。所有患者均通过内镜和乳突后入路进行了广泛的局部切除。致磷性间叶肿瘤诱导的骨软化症是一种罕见疾病,具有全身性非特异性症状。尽管该疾病具有挑战性,但手术切除肿瘤可实现完全治愈并显著缓解症状。

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