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CASE REPORT article
Front. Oncol.
Sec. Neuro-Oncology and Neurosurgical Oncology
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1527909
SMARCB1-deficient Phenotype may be a New Specialized Type of Pleomorphic Xanthoastrocytoma Associated with Poor Prognosis
Provisionally accepted- Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China
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.
Keywords: pleomorphic xanthoastrocytoma, SMARCB1, deficiency, DNA methylation profile, Genetic characteristics
Received: 14 Nov 2024; Accepted: 12 Mar 2025.
Copyright: © 2025 Zhang, Xiang, Ma, Zhang, Xu, He and Xu. 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) or licensor 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.
* Correspondence:
Jinghong Xu, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China
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