Lieber Bryan, Han ByoungJun, Allen Jeffrey, Fatterpekar Girish, Agarwal Nitin, Kazemi Noojan, Zagzag David
Department of Neurological Surgery, University of Arkansas for Medical Sciences, 4301 W. Markham Street, #507, Little Rock, AR 72205, USA.
New York University School of Medicine, New York, NY, USA.
J Clin Neurosci. 2016 Aug;30:138-140. doi: 10.1016/j.jocn.2016.01.027. Epub 2016 Mar 5.
Schwannomatosis is characterized by multiple non-intradermal schwannomas with patients often presenting with a painful mass in their extremities. In this syndrome malignant transformation of schwannomas is rare in spite of their large size at presentation. Non-invasive measures of assessing the biological behavior of plexiform neurofibromas in neurofibromatosis type 1 such as positron emission tomography (PET), CT scanning and MRI are well characterized but little information has been published on the use of PET imaging in schwannomatosis. We report a unique clinical presentation portraying the use of PET imaging in schwannomatosis. A 27-year-old woman presented with multiple, rapidly growing, large and painful schwannomas confirmed to be related to a constitutional mutation in the SMARCB1 complex. Whole body PET/MRI revealed numerous PET-avid tumors suggestive of malignant peripheral nerve sheath tumors. Surgery was performed on multiple tumors and none of them had histologic evidence of malignant transformation. Overall, PET imaging may not be a reliable predictor of malignant transformation in schwannomatosis, tempering enthusiasm for surgical interventions for tumors not producing significant clinical signs or symptoms.
神经鞘瘤病的特征是多发性非皮内神经鞘瘤，患者常表现为四肢出现疼痛性肿块。在这种综合征中，尽管神经鞘瘤在初诊时体积较大，但恶变很少见。1型神经纤维瘤病中评估丛状神经纤维瘤生物学行为的非侵入性方法，如正电子发射断层扫描（PET）、CT扫描和MRI已得到充分描述，但关于PET成像在神经鞘瘤病中的应用报道较少。我们报告了一例独特的临床表现，描述了PET成像在神经鞘瘤病中的应用。一名27岁女性，有多发性、快速生长、巨大且疼痛的神经鞘瘤，经证实与SMARCB1复合体的遗传性突变有关。全身PET/MRI显示大量PET摄取阳性肿瘤，提示为恶性外周神经鞘膜瘤。对多个肿瘤进行了手术，均无恶变的组织学证据。总体而言，PET成像可能不是神经鞘瘤病恶变的可靠预测指标，这减弱了对未产生明显临床体征或症状的肿瘤进行手术干预的热情。
