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A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature

Malignant peripheral nerve sheath tumors (MPNSTs) are commonly associated with poor prognosis and are primarily caused by germline mutations in the SMARCB1/INI-1 gene. However, these tumors are rarely found in the spine. This case report presents the case of a 3-year-old boy diagnosed with a lumbosa...

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Autores principales: Qi, Maoyang, Jiang, Nan, Duan, Wanru, Chen, Zan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10248439/
https://www.ncbi.nlm.nih.gov/pubmed/37305741
http://dx.doi.org/10.3389/fneur.2023.1178651
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author Qi, Maoyang
Jiang, Nan
Duan, Wanru
Chen, Zan
author_facet Qi, Maoyang
Jiang, Nan
Duan, Wanru
Chen, Zan
author_sort Qi, Maoyang
collection PubMed
description Malignant peripheral nerve sheath tumors (MPNSTs) are commonly associated with poor prognosis and are primarily caused by germline mutations in the SMARCB1/INI-1 gene. However, these tumors are rarely found in the spine. This case report presents the case of a 3-year-old boy diagnosed with a lumbosacral dumbbell-shaped epithelioid MPNST, an extremely uncommon manifestation. Immunohistochemistry revealed the complete absence of the SMARCB1/INI-1 protein, and genetic testing identified a novel germline mutation in the SMARCB1/INI-1 gene in both the patient and his father, suggesting a “second-hit loss.” One year of follow-up after the tumor's radical resection revealed no suspected metastasis. This case report offers novel genetic research results regarding spinal dumbbell-shaped MPNSTs. Six studies, including 13 cases associated with spinal dumbbell MPNST, were included in the literature. The range of age of these patients varied from 2 to 71 years. Of the 12 known patients diagnosed with spinal dumbbell MPNST, only one received radiation therapy, while the rest underwent surgery. Two patients who underwent partial resection had metastases after surgery, while one of the five patients who underwent complete surgical resection alone had no distant metastases and a good prognosis, indicating that radical resection is more likely to be effective in inhibiting distant metastasis and improving the prognosis.
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spelling pubmed-102484392023-06-09 A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature Qi, Maoyang Jiang, Nan Duan, Wanru Chen, Zan Front Neurol Neurology Malignant peripheral nerve sheath tumors (MPNSTs) are commonly associated with poor prognosis and are primarily caused by germline mutations in the SMARCB1/INI-1 gene. However, these tumors are rarely found in the spine. This case report presents the case of a 3-year-old boy diagnosed with a lumbosacral dumbbell-shaped epithelioid MPNST, an extremely uncommon manifestation. Immunohistochemistry revealed the complete absence of the SMARCB1/INI-1 protein, and genetic testing identified a novel germline mutation in the SMARCB1/INI-1 gene in both the patient and his father, suggesting a “second-hit loss.” One year of follow-up after the tumor's radical resection revealed no suspected metastasis. This case report offers novel genetic research results regarding spinal dumbbell-shaped MPNSTs. Six studies, including 13 cases associated with spinal dumbbell MPNST, were included in the literature. The range of age of these patients varied from 2 to 71 years. Of the 12 known patients diagnosed with spinal dumbbell MPNST, only one received radiation therapy, while the rest underwent surgery. Two patients who underwent partial resection had metastases after surgery, while one of the five patients who underwent complete surgical resection alone had no distant metastases and a good prognosis, indicating that radical resection is more likely to be effective in inhibiting distant metastasis and improving the prognosis. Frontiers Media S.A. 2023-05-25 /pmc/articles/PMC10248439/ /pubmed/37305741 http://dx.doi.org/10.3389/fneur.2023.1178651 Text en Copyright © 2023 Qi, Jiang, Duan and Chen. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Qi, Maoyang
Jiang, Nan
Duan, Wanru
Chen, Zan
A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature
title A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature
title_full A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature
title_fullStr A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature
title_full_unstemmed A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature
title_short A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature
title_sort sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in smarcb1: a case report and review of the literature
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10248439/
https://www.ncbi.nlm.nih.gov/pubmed/37305741
http://dx.doi.org/10.3389/fneur.2023.1178651
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