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脑干内实质 schwannoma 的基因分析:病例报告及文献复习。

Brainstem intraparenchymal schwannoma with genetic analysis: a case report and literature review.

机构信息

Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.

Department of Pathology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

出版信息

BMC Med Genomics. 2021 Aug 18;14(1):205. doi: 10.1186/s12920-021-01049-z.

Abstract

BACKGROUND

Schwannomas are neoplasms that typically arise from the myelin sheath of peripheral nerves and rarely originate within the brain parenchyma. Some case reports present schwannomas arising from the brainstem, but regrowth of the tumor and the efficacy of postoperative irradiation have not been examined. In addition, the genetic background of schwannomas arising from the brainstem has not been investigated.

CASE PRESENTATION

A 21-year-old male presented with diplopia, dysphagia, and left-sided hemiparesis, dysesthesia, and ataxia. Intracranial imaging showed a heterogeneous mass with a cystic lesion in the pontomedullary junction. Since the tumor caused obstructive hydrocephalus, the patient underwent subtotal tumor resection. A histopathologic evaluation aided a diagnosis of brainstem intraparenchymal schwannoma. Gradual postoperative mass regrowth was recognized. Three-dimensional conformal radiotherapy was performed on the residual mass and surgical cavity. No tumor regrowth was observed 4 years after surgery. To investigate the genetic background of the tumor, target sequences for 36 genes, including NF2, SMARCB1, and LZTR1, and microsatellite analysis for loss of 22q did not show any somatic variants or 22q loss.

CONCLUSIONS

We suggest that brainstem schwannomas might differ from conventional schwannomas in their genetic background.

摘要

背景

神经鞘瘤是一种通常起源于周围神经髓鞘的肿瘤,很少发生在脑实质内。一些病例报告显示起源于脑干的神经鞘瘤,但肿瘤的复发和术后放疗的疗效尚未得到检验。此外,起源于脑干的神经鞘瘤的遗传背景尚未得到研究。

病例介绍

一名 21 岁男性出现复视、吞咽困难和左侧偏瘫、感觉异常和共济失调。颅内影像学显示桥延髓交界处有一个混杂密度的肿块,伴有囊性病变。由于肿瘤导致梗阻性脑积水,患者接受了大部分肿瘤切除术。组织病理学评估有助于诊断为脑干实质内的神经鞘瘤。术后逐渐发现肿块复发。对残余肿块和手术腔进行了三维适形放疗。术后 4 年未观察到肿瘤复发。为了研究肿瘤的遗传背景,对包括 NF2、SMARCB1 和 LZTR1 在内的 36 个基因的靶序列和 22q 缺失的微卫星分析未显示任何体细胞变异或 22q 缺失。

结论

我们认为,脑干神经鞘瘤在遗传背景上可能与传统神经鞘瘤不同。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/31f1/8371869/b8adfd817d85/12920_2021_1049_Fig1_HTML.jpg

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