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腰骶丛神经纤维瘤:一例成人非神经纤维瘤病 I 型病例。

Lumbosacral plexiform neurofibroma: a rare case in an adult without neurofibromatosis type I.

机构信息

Department of Radiology, University of Missouri, Columbia, MO, USA.

出版信息

Skeletal Radiol. 2020 Feb;49(2):321-330. doi: 10.1007/s00256-019-03281-2. Epub 2019 Jul 24.

Abstract

Plexiform neurofibromas are an uncommon variant of neurofibromas that are described as being essentially pathognomonic of neurofibromatosis type 1 (NF1). Plexiform neurofibromas in the absence of NF1 are extremely rare. We present the case of a 38-year-old woman with a large multilobulated lumbosacral mass extending into the pelvis and proximal thigh. Histopathology of a CT-guided biopsy of the mass revealed it to be a neurofibroma. The imaging findings were consistent with a plexiform subtype. Further imaging and clinical workup showed that the patient had no other identifiable neurofibromas and did not meet criteria for the diagnosis of NF1.

摘要

丛状神经纤维瘤是神经纤维瘤的一种罕见变异,被描述为神经纤维瘤病 1 型(NF1)的主要特征。NF1 缺失时丛状神经纤维瘤极为罕见。我们报告了 1 例 38 岁女性患者,其腰骶部有一巨大分叶状肿块,延伸至骨盆和大腿近端。对肿块进行 CT 引导下活检的组织病理学检查显示为神经纤维瘤。影像学检查结果与丛状亚型一致。进一步的影像学和临床检查显示,患者没有其他可识别的神经纤维瘤,也不符合 NF1 的诊断标准。

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