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

## TL;DR

A rare case of pleomorphic xanthoastrocytoma with SMARCB1 deficiency is reported, showing a poor prognosis and unique genetic features.

## Contribution

Identification of a new specialized type of PXA with SMARCB1 deficiency and its association with poor outcomes.

## Key findings

- The tumor exhibited both glial and rhabdoid elements with molecular features of PXA.
- SMARCB1 (INI1) expression was lost in the rhabdoid elements.
- DNA methylation profiling confirmed the diagnosis as PXA with a calibrated score of 0.81.

## Abstract

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.