成人女性脊柱非典型横纹肌样畸胎瘤：病例报告及文献复习。
Spinal Atypical Rhabdoid Teratoid Tumor in an Adult Woman: Case Report and Review of the Literature.
机构信息
Department of Neurosurgery, Evangelismos Hospital, Athens, Greece; Department of Neurosurgery, National Kapodistrian University of Athens, Athens, Greece; Athens Microneurosurgery Laboratory, Athens, Greece.
Department of Neurosurgery, Evangelismos Hospital, Athens, Greece; Department of Neurosurgery, National Kapodistrian University of Athens, Athens, Greece; Athens Microneurosurgery Laboratory, Athens, Greece.
出版信息
World Neurosurg. 2019 Aug;128:196-199. doi: 10.1016/j.wneu.2019.05.007. Epub 2019 May 10.
BACKGROUND
Atypical rhabdoid teratoid tumors are very rare embryonal tumors that typically affect children younger than 3 years old and are encountered intracranially.
CASE DESCRIPTION
Here, we describe the case of a 19-year-old woman who presented with gait disturbances and coccydynia. Imaging revealed a cauda equina mass. The tumor was partially resected. Histology reported loss of SMARCB1/INI1 expression and therefore the diagnosis of atypical rhabdoid teratoid was established. The patient underwent radiation treatment, but within 3 months 2 relapses were manifested.
CONCLUSIONS
Atypical rhabdoid teratoids are exceptionally rare in adults and are seldom found in spine; only 8 such cases have been reported in the medical literature. They are invariantly characterized by multiple relapses and dismal prognosis. The clinician must be attentive of leptomeningeal disseminations and 22q11 deletion-associated comorbidities.
背景
非典型横纹肌样肿瘤是非常罕见的胚胎性肿瘤，通常影响 3 岁以下的儿童，并且发生在颅内。
病例描述
在这里，我们描述了一名 19 岁女性的病例，她表现出行走困难和尾骨痛。影像学显示马尾神经肿块。肿瘤部分切除。组织学报告显示 SMARCB1/INI1 表达缺失，因此诊断为非典型横纹肌样肿瘤。患者接受了放疗，但在 3 个月内出现了 2 次复发。
结论
非典型横纹肌样肿瘤在成人中非常罕见，在脊柱中很少见；在医学文献中仅报告了 8 例此类病例。它们的特征是多次复发和预后不良。临床医生必须注意脑膜播散和 22q11 缺失相关的合并症。
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