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

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...

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Autores principales: Ishigami, Daiichiro, Miyawaki, Satoru, Nakatomi, Hirofumi, Takayanagi, Shunsaku, Teranishi, Yu, Ohara, Kenta, Hongo, Hiroki, Dofuku, Shogo, Kin, Taichi, Abe, Hiroyuki, Mitsui, Jun, Komura, Daisuke, Katoh, Hiroto, Ishikawa, Shumpei, Saito, Nobuhito
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8371869/
https://www.ncbi.nlm.nih.gov/pubmed/34407809
http://dx.doi.org/10.1186/s12920-021-01049-z
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author Ishigami, Daiichiro
Miyawaki, Satoru
Nakatomi, Hirofumi
Takayanagi, Shunsaku
Teranishi, Yu
Ohara, Kenta
Hongo, Hiroki
Dofuku, Shogo
Kin, Taichi
Abe, Hiroyuki
Mitsui, Jun
Komura, Daisuke
Katoh, Hiroto
Ishikawa, Shumpei
Saito, Nobuhito
author_facet Ishigami, Daiichiro
Miyawaki, Satoru
Nakatomi, Hirofumi
Takayanagi, Shunsaku
Teranishi, Yu
Ohara, Kenta
Hongo, Hiroki
Dofuku, Shogo
Kin, Taichi
Abe, Hiroyuki
Mitsui, Jun
Komura, Daisuke
Katoh, Hiroto
Ishikawa, Shumpei
Saito, Nobuhito
author_sort Ishigami, Daiichiro
collection PubMed
description 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.
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spelling pubmed-83718692021-08-19 Brainstem intraparenchymal schwannoma with genetic analysis: a case report and literature review Ishigami, Daiichiro Miyawaki, Satoru Nakatomi, Hirofumi Takayanagi, Shunsaku Teranishi, Yu Ohara, Kenta Hongo, Hiroki Dofuku, Shogo Kin, Taichi Abe, Hiroyuki Mitsui, Jun Komura, Daisuke Katoh, Hiroto Ishikawa, Shumpei Saito, Nobuhito BMC Med Genomics Case Report 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. BioMed Central 2021-08-18 /pmc/articles/PMC8371869/ /pubmed/34407809 http://dx.doi.org/10.1186/s12920-021-01049-z Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Ishigami, Daiichiro
Miyawaki, Satoru
Nakatomi, Hirofumi
Takayanagi, Shunsaku
Teranishi, Yu
Ohara, Kenta
Hongo, Hiroki
Dofuku, Shogo
Kin, Taichi
Abe, Hiroyuki
Mitsui, Jun
Komura, Daisuke
Katoh, Hiroto
Ishikawa, Shumpei
Saito, Nobuhito
Brainstem intraparenchymal schwannoma with genetic analysis: a case report and literature review
title Brainstem intraparenchymal schwannoma with genetic analysis: a case report and literature review
title_full Brainstem intraparenchymal schwannoma with genetic analysis: a case report and literature review
title_fullStr Brainstem intraparenchymal schwannoma with genetic analysis: a case report and literature review
title_full_unstemmed Brainstem intraparenchymal schwannoma with genetic analysis: a case report and literature review
title_short Brainstem intraparenchymal schwannoma with genetic analysis: a case report and literature review
title_sort brainstem intraparenchymal schwannoma with genetic analysis: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8371869/
https://www.ncbi.nlm.nih.gov/pubmed/34407809
http://dx.doi.org/10.1186/s12920-021-01049-z
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