Pappas Center for Neuro-Oncology, Yawkey 9E, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA.
Oncologist. 2012;17(10):1317-22. doi: 10.1634/theoncologist.2012-0162. Epub 2012 Aug 27.
Schwannomatosis is a recently recognized form of neurofibromatosis characterized by multiple noncutaneous schwannomas, a histologically benign nerve sheath tumor. As more cases are identified, the reported phenotype continues to expand and evolve. We describe the spectrum of clinical findings in a cohort of patients meeting established criteria for schwannomatosis.
We retrospectively reviewed the clinical records of patients seen at our institution from 1995-2011 who fulfilled either research or clinical criteria for schwannomatosis. Clinical, radiographic, and pathologic data were extracted with attention to age at onset, location of tumors, ophthalmologic evaluation, family history, and other stigmata of neurofibromatosis 1 (NF1) or NF2.
Eighty-seven patients met the criteria for the study. The most common presentation was pain unassociated with a mass (46%). Seventy-seven of 87 (89%) patients had peripheral schwannomas, 49 of 66 (74%) had spinal schwannomas, seven of 77 (9%) had nonvestibular intracranial schwannomas, and four of 77 (5%) had intracranial meningiomas. Three patients were initially diagnosed with a malignant peripheral nerve sheath tumor; however, following pathologic review, the diagnoses were revised in all three cases. Chronic pain was the most common symptom (68%) and usually persisted despite aggressive surgical and medical management. Other common diagnoses included headaches, depression, and anxiety.
Peripheral and spinal schwannomas are common in schwannomatosis patients. Severe pain is difficult to treat in these patients and often associated with anxiety and depression. These findings support a proactive surveillance plan to identify tumors by magnetic resonance imaging scan in order to optimize surgical treatment and to treat associated pain, anxiety, and depression.
神经鞘瘤病是一种新近被认识的神经纤维瘤病形式，其特征为多发性非皮肤神经鞘瘤，一种组织学良性的神经鞘肿瘤。随着越来越多的病例被识别，所报道的表型不断扩展和演变。我们描述了一组符合神经鞘瘤病既定标准的患者的临床发现谱。
我们回顾性地审查了我们机构 1995 年至 2011 年间就诊的患者的临床记录，这些患者符合神经鞘瘤病的研究或临床标准。提取了临床、影像学和病理学数据，重点关注发病年龄、肿瘤位置、眼科评估、家族史和神经纤维瘤病 1 (NF1) 或 NF2 的其他征象。
87 例患者符合研究标准。最常见的表现是与肿块无关的疼痛（46%）。87 例患者中有 77 例（89%）有周围神经鞘瘤，66 例中有 49 例（74%）有脊髓神经鞘瘤，77 例中有 7 例（9%）有非前庭颅内神经鞘瘤，77 例中有 4 例（5%）有颅内脑膜瘤。有 3 例患者最初被诊断为恶性外周神经鞘瘤；然而，在病理检查后，所有 3 例患者的诊断均被修改。慢性疼痛是最常见的症状（68%），尽管进行了积极的手术和药物治疗，但通常仍持续存在。其他常见的诊断包括头痛、抑郁和焦虑。
周围和脊髓神经鞘瘤在神经鞘瘤病患者中很常见。这些患者的严重疼痛难以治疗，并且常与焦虑和抑郁有关。这些发现支持了一项主动监测计划，通过磁共振成像扫描来识别肿瘤，以优化手术治疗，并治疗相关的疼痛、焦虑和抑郁。
