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Updated: May 13, 2025

Modeling Astrocytoma Pathogenesis In Vitro and In Vivo Using Cortical Astrocytes or Neural Stem Cells from Conditional, Genetically Engineered Mice

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Case Report: SMARCB1-deficient phenotype may be a new specialized type of pleomorphic xanthoastrocytoma associated

Hui Zhang¹, Xueping Xiang², Xiaojing Ma²

¹Department of Clinical Diagnostic Pathology, The Second Affiliated Hospital of Medical College of Zhejiang University, Hangzhou, China.

Frontiers in Oncology

|April 15, 2025

Summary

Pleomorphic xanthoastrocytoma (PXA) with SMARCB1 deficiency is a rare glioma subtype. This case highlights its distinct molecular and histological features, aiding in diagnosis and understanding of this rare brain tumor.

Keywords:

DNA methylation profile SMARCB1 deficiency genetic characteristics pleomorphic xanthoastrocytoma

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Area of Science:

Neuro-oncology
Molecular Pathology
Genetics

Background:

Pleomorphic xanthoastrocytoma (PXA) is a rare glioma with distinct genetic markers like BRAF V600E mutations.
PXA generally has a better prognosis than IDH-wildtype glioblastoma.
Rare PXA cases exhibit rhabdoid features, with limited investigation into their genetic underpinnings.

Observation:

A 49-year-old woman presented with a left frontotemporal brain mass.
Histological examination revealed glial and rhabdoid elements, both molecularly consistent with PXA.
Immunohistochemistry showed loss of SMARCB1 (INI1) expression in the rhabdoid components.

Findings:

DNA methylation profiling confirmed a high probability (calibrated score 0.81) of methylation class PXA.
The tumor was diagnosed as PXA with SMARCB1 deficiency, integrating histological, molecular, and genetic data.

Implications:

This case expands the understanding of PXA heterogeneity.
SMARCB1 deficiency in PXA may represent a distinct molecular subgroup requiring further investigation.
Accurate molecular and histological characterization is crucial for diagnosing rare brain tumors like PXA with rhabdoid features.