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

Authors :
Daiichiro Ishigami
Satoru Miyawaki
Hirofumi Nakatomi
Shunsaku Takayanagi
Yu Teranishi
Kenta Ohara
Hiroki Hongo
Shogo Dofuku
Taichi Kin
Hiroyuki Abe
Jun Mitsui
Daisuke Komura
Hiroto Katoh
Shumpei Ishikawa
Nobuhito Saito
Source :
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)
Publication Year :
2021
Publisher :
BMC, 2021.

Abstract

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.

Details

Language :
English
ISSN :
17558794
Volume :
14
Issue :
1
Database :
Directory of Open Access Journals
Journal :
BMC Medical Genomics
Publication Type :
Academic Journal
Accession number :
edsdoj.446c385dac9a43cba98d529b3be0dd7d
Document Type :
article
Full Text :
https://doi.org/10.1186/s12920-021-01049-z