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Current Molecular and Clinical Landscape of ATRT – The Link to Future Therapies

1 Dec 2023

Abstract excerpt

Abstract: ATRT is a highly aggressive and rare pediatric CNS tumor of very young children. Its genetic hallmark is bi-allelic inactivation of SMARCB1 encoding INI1. Rarely SMARCA4 encoding BRG1 is affected. Up to 30% are associated with constitutional heterozygous pathogenic variants in one of the two genes, giving rise to the Rhabdoid-Tumor-Predisposition-Syndromes (RTPS) 1 and 2. Characteristic DNA methylation...

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PMID: 38089834
DOI: 10.2147/cmar.s379451

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