What question did this study set out to answer?

This case report aims to describe the transformation of pleomorphic xanthoastrocytoma into a rhabdoid tumor with an associated germline ATM mutation.

May 9, 2026Open Access

Transformation of Pleomorphic Xanthoastrocytoma with Germline ATM Mutation into a SMARCB1-Deficient Rhabdoid Tumor: A Case Report

HLHyeonseung LeeSeoul National University Children's Hospital HPHyun Jin ParkNew Generation University College BKBo Kyung KimSeoul National University Hospital

Key Points

This case report aims to describe the transformation of pleomorphic xanthoastrocytoma into a rhabdoid tumor with an associated germline ATM mutation.
Detailed clinical assessment of tumor specimens.
Genetic analysis for mutations, particularly focusing on ATM and SMARCB1.
Identification of a germline ATM mutation in the patient.
Documentation of histological transformation from pleomorphic xanthoastrocytoma to SMARCB1-deficient rhabdoid tumor.

Abstract

Hyeonseung Lee, Hyun Jin Park, Bo Kyung Kim, Kyung Taek Hong, Hyoung Jin Kang, Sung-Hye Park, Ji Hoon Phi, June-Young Koh and Jung Yoon Choi. CPHO 2026;33:34-8. https://doi.org/10.15264/cpho.2026.33.1.34

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Cite This Study

Lee et al. (Thu,) studied this question.

synapsesocial.com/papers/69fed0e2b9154b0b82877ffe https://doi.org/https://doi.org/10.15264/cpho.2026.33.1.34

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