Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.

doi:10.1007/s00401-020-02250-7

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Article

Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.

Acta neuropathologica - 1 Feb 2021

Holdhof Dörthe, Johann Pascal D, Spohn Michael, Bockmayr Michael, Safaei Sepehr, Joshi Piyush, Masliah-Planchon Julien, Ho Ben, Andrianteranagna Mamy, Bourdeaut Franck, Huang Annie, Kool Marcel, Upadhyaya Santhosh A, Bendel Anne E, Indenbirken Daniela, Foulkes William D, Bush Jonathan W, Creytens David, Kordes Uwe, Frühwald Michael C, Hasselblatt Martin, Schüller Ulrich

Abstract excerpt

Atypical teratoid/rhabdoid tumors (ATRTs) are very aggressive childhood malignancies of the central nervous system. The underlying genetic cause are inactivating bi-allelic mutations in SMARCB1 or (rarely) in SMARCA4. ATRT-SMARCA4 have been associated with a higher frequency of germline mutations, younger age, and an inferior prognosis in comparison to SMARCB1 mutated cases. Based on their DNA methylation...

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PMID: 33331994
DOI: 10.1007/s00401-020-02250-7
PMCID: PMC7847432

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