Case Report: SMARCB1-deficient phenotype may be a new specialized type of pleomorphic xanthoastrocytoma associated with poor prognosis
Pleomorphic xanthoastrocytoma (PXA) is a rare, localized glioma characterized by frequent BRAF V600E mutations and CDKN2A/B deletions. Compared to IDH-wildtype glioblastoma, PXA has a better prognosis. Recently, rare cases of PXA with rhabdoid histological characteristics have been reported, which a...
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| Format: | Article |
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Frontiers Media S.A.
2025-03-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2025.1527909/full |
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| author | Hui Zhang Xueping Xiang Xiaojing Ma Buyi Zhang Susu Xu Xiaojuan He Jinghong Xu |
| author_facet | Hui Zhang Xueping Xiang Xiaojing Ma Buyi Zhang Susu Xu Xiaojuan He Jinghong Xu |
| author_sort | Hui Zhang |
| collection | DOAJ |
| description | Pleomorphic xanthoastrocytoma (PXA) is a rare, localized glioma characterized by frequent BRAF V600E mutations and CDKN2A/B deletions. Compared to IDH-wildtype glioblastoma, PXA has a better prognosis. Recently, rare cases of PXA with rhabdoid histological characteristics have been reported, which are titled atypical teratoid/rhabdoid tumor arising in a PXA. However, the genetic characteristics of these cases have rarely been investigated. Herein, we present a 49-year-old woman with a mass in the left frontotemporal region. Microscopically, this mass is composed of the glial and rhabdoid elements, both of which have molecular features of PXA, and the rhabdoid elements assessed using immunohistochemistry for SMARCB1 (INI1) expression demonstrated expression loss. The DNA methylation profile showed a significant calibrated score of 0.81 for methylation class PXA. The tumor was eventually diagnosed as a PXA with SMARCB1 deficiency. |
| format | Article |
| id | doaj-art-a8ed0133d662401fb5673fc02b51be49 |
| institution | Kabale University |
| issn | 2234-943X |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj-art-a8ed0133d662401fb5673fc02b51be492025-08-20T03:41:01ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2025-03-011510.3389/fonc.2025.15279091527909Case Report: SMARCB1-deficient phenotype may be a new specialized type of pleomorphic xanthoastrocytoma associated with poor prognosisHui Zhang0Xueping Xiang1Xiaojing Ma2Buyi Zhang3Susu Xu4Xiaojuan He5Jinghong Xu6Department of Clinical Diagnostic Pathology, The Second Affiliated Hospital of Medical College of Zhejiang University, Hangzhou, ChinaDepartment of Molecular Pathology, The Second Affiliated Hospital of Medical College of Zhejiang University, Hangzhou, ChinaDepartment of Molecular Pathology, The Second Affiliated Hospital of Medical College of Zhejiang University, Hangzhou, ChinaDepartment of Clinical Diagnostic Pathology, The Second Affiliated Hospital of Medical College of Zhejiang University, Hangzhou, ChinaDepartment of Clinical Diagnostic Pathology, The Second Affiliated Hospital of Medical College of Zhejiang University, Hangzhou, ChinaDepartment of Clinical Diagnostic Pathology, The Second Affiliated Hospital of Medical College of Zhejiang University, Hangzhou, ChinaDepartment of Clinical Diagnostic Pathology, The Second Affiliated Hospital of Medical College of Zhejiang University, Hangzhou, ChinaPleomorphic xanthoastrocytoma (PXA) is a rare, localized glioma characterized by frequent BRAF V600E mutations and CDKN2A/B deletions. Compared to IDH-wildtype glioblastoma, PXA has a better prognosis. Recently, rare cases of PXA with rhabdoid histological characteristics have been reported, which are titled atypical teratoid/rhabdoid tumor arising in a PXA. However, the genetic characteristics of these cases have rarely been investigated. Herein, we present a 49-year-old woman with a mass in the left frontotemporal region. Microscopically, this mass is composed of the glial and rhabdoid elements, both of which have molecular features of PXA, and the rhabdoid elements assessed using immunohistochemistry for SMARCB1 (INI1) expression demonstrated expression loss. The DNA methylation profile showed a significant calibrated score of 0.81 for methylation class PXA. The tumor was eventually diagnosed as a PXA with SMARCB1 deficiency.https://www.frontiersin.org/articles/10.3389/fonc.2025.1527909/fullpleomorphic xanthoastrocytomaSMARCB1deficiencyDNA methylation profilegenetic characteristics |
| spellingShingle | Hui Zhang Xueping Xiang Xiaojing Ma Buyi Zhang Susu Xu Xiaojuan He Jinghong Xu Case Report: SMARCB1-deficient phenotype may be a new specialized type of pleomorphic xanthoastrocytoma associated with poor prognosis Frontiers in Oncology pleomorphic xanthoastrocytoma SMARCB1 deficiency DNA methylation profile genetic characteristics |
| title | Case Report: SMARCB1-deficient phenotype may be a new specialized type of pleomorphic xanthoastrocytoma associated with poor prognosis |
| title_full | Case Report: SMARCB1-deficient phenotype may be a new specialized type of pleomorphic xanthoastrocytoma associated with poor prognosis |
| title_fullStr | Case Report: SMARCB1-deficient phenotype may be a new specialized type of pleomorphic xanthoastrocytoma associated with poor prognosis |
| title_full_unstemmed | Case Report: SMARCB1-deficient phenotype may be a new specialized type of pleomorphic xanthoastrocytoma associated with poor prognosis |
| title_short | Case Report: SMARCB1-deficient phenotype may be a new specialized type of pleomorphic xanthoastrocytoma associated with poor prognosis |
| title_sort | case report smarcb1 deficient phenotype may be a new specialized type of pleomorphic xanthoastrocytoma associated with poor prognosis |
| topic | pleomorphic xanthoastrocytoma SMARCB1 deficiency DNA methylation profile genetic characteristics |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2025.1527909/full |
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