Atypical Teratoid/Rhabdoid Tumor (ATRT)

Overview

Atypical teratoid/rhabdoid tumor (ATRT) is a highly aggressive embryonal CNS tumor most commonly affecting infants and young children. It is defined by biallelic inactivation of SMARCB1 (INI1, BAF47) or, less commonly, SMARCA4 (BRG1). Three molecular subgroups are recognized: ATRT-TYR (ASCL1-overexpressing), ATRT-SHH, and ATRT-MYC. ATRT-TYR has a relatively favorable prognosis. Treatment involves multimodal therapy (surgery, chemotherapy, radiation when age-appropriate).

Cohorts in the corpus

• mixed_pipseq_2017 — PIPseq pediatric pan-cancer cohort (Columbia University Medical Center), which includes ATRT cases among 101 high-risk pediatric patients PMID:28007021.

Recurrent alterations

• PIPseq cohort: ASCL1 overexpression with 22q11.21 LOH including SMARCB1 identified as diagnostic of ATRT and prognostic for improved outcome (consistent with ATRT-TYR subtype); RNA-seq provided the expression-based subtype classification PMID:28007021.

Subtypes

• ATRT-TYR (ASCL1/MITF overexpression): best prognosis among ATRT subgroups.
• ATRT-SHH (SHH pathway activation): intermediate prognosis.
• ATRT-MYC (MYC/HOTAIR overexpression): worst prognosis.

Therapeutic landscape

• Intensive multimodal therapy (surgery + high-dose chemotherapy + radiation where feasible); EZH2 inhibitors (tazemetostat) under investigation given SWI/SNF complex loss.

Sources

• PMID:28007021 — Oberg et al. PIPseq pediatric pan-cancer sequencing program (n=101).

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