Department of Pathology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Nuffield Orthopaedic Centre, Oxford, OX3 7HE, UK.
Skeletal Radiol. 2013 Dec;42(12):1665-71. doi: 10.1007/s00256-013-1712-6. Epub 2013 Aug 31.
This study investigates the clinical, radiological, and pathological features of two cases of intraosseous schwannoma that arose in patients with multiple soft tissue schwannomas. In both cases, the patients were adult females and the tibial bone was affected. Vestibular schwannomas were not identified, indicating that these were not cases of neurofibromatosis 2 (NF2). Radiographs showed a well-defined lytic lesion in the proximal tibia; in one case, this was associated with a pathological fracture. Histologically, both cases showed typical features of benign schwannoma. Molecular analysis of one of the excised tumors showed different alterations in the NF2 gene in keeping with a diagnosis of schwannomatosis. Our findings show for the first time that intraosseous schwannomas can occur in schwannomatosis.
本研究调查了两例发生在多发性软组织神经鞘瘤患者中的骨内神经鞘瘤的临床、放射学和病理学特征。在这两个病例中，患者均为成年女性，且胫骨受到了影响。前庭神经鞘瘤并未被发现，这表明这些病例并非神经纤维瘤病 2 型（NF2）。X 光片显示胫骨近端有一个界限清楚的溶骨性病变；在其中一个病例中，该病变与病理性骨折有关。组织学上，两个病例均显示出典型的良性神经鞘瘤特征。对切除肿瘤之一的分子分析显示 NF2 基因的不同改变，符合神经鞘瘤病的诊断。我们的研究结果首次表明，骨内神经鞘瘤可发生在神经鞘瘤病中。
