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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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-05-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2023.1178651/full |
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| author | Maoyang Qi Maoyang Qi Nan Jiang Wanru Duan Wanru Duan Wanru Duan Zan Chen Zan Chen Zan Chen |
| author_facet | Maoyang Qi Maoyang Qi Nan Jiang Wanru Duan Wanru Duan Wanru Duan Zan Chen Zan Chen Zan Chen |
| author_sort | Maoyang Qi |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-13T09:39:58Z |
| format | Article |
| id | doaj.art-d658959696db4f11b133300f8869b583 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-03-13T09:39:58Z |
| publishDate | 2023-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-d658959696db4f11b133300f8869b5832023-05-25T04:51:25ZengFrontiers Media S.A.Frontiers in Neurology1664-22952023-05-011410.3389/fneur.2023.11786511178651A 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 literatureMaoyang Qi0Maoyang Qi1Nan Jiang2Wanru Duan3Wanru Duan4Wanru Duan5Zan Chen6Zan Chen7Zan Chen8Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, ChinaSpine Center, China International Neuroscience Institute (CHINA-INI), Beijing, ChinaDepartment of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, ChinaDepartment of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, ChinaSpine Center, China International Neuroscience Institute (CHINA-INI), Beijing, ChinaLab of Spinal Cord Injury and Functional Reconstruction, Xuanwu Hospital, Capital Medical University, Beijing, ChinaDepartment of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, ChinaSpine Center, China International Neuroscience Institute (CHINA-INI), Beijing, ChinaLab of Spinal Cord Injury and Functional Reconstruction, Xuanwu Hospital, Capital Medical University, Beijing, ChinaMalignant 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.https://www.frontiersin.org/articles/10.3389/fneur.2023.1178651/fullepithelioid malignant peripheral nerve sheath tumorSMARCB1/INI-1 mutationspinal dumbbell-shaped tumorsecond-hit lossradical resection |
| spellingShingle | Maoyang Qi Maoyang Qi Nan Jiang Wanru Duan Wanru Duan Wanru Duan Zan Chen Zan Chen Zan Chen 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 Frontiers in Neurology epithelioid malignant peripheral nerve sheath tumor SMARCB1/INI-1 mutation spinal dumbbell-shaped tumor second-hit loss radical resection |
| 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 | epithelioid malignant peripheral nerve sheath tumor SMARCB1/INI-1 mutation spinal dumbbell-shaped tumor second-hit loss radical resection |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2023.1178651/full |
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