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.
Resumen
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
Transformación de un astrocitoma xantoastrociomatoso pleomórfico con mutación germinal en ATM en un tumor rabdoide deficiente en SMARCB1: un informe de caso | Synapse