ArticleActa neuropathologica2021
Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.
Article in Acta neuropathologica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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47 citing papers in PubMed, 88 citations in OpenAlex.
- A Phase Ib Case Series Using Bortezomib With Chemotherapy in Atypical Teratoid/Rhabdoid Tumors.Cancer medicine · 2026Article
- Variable latency between the founder genetic event and rhabdoid tumor expansion.bioRxiv : the preprint server for biology · 2026Article
- Molecular changes during AT/RT progression associated with epithelial-mesenchymal transition and extracellular matrix changes.Acta neuropathologica · 2026Article
- Epigenetic collapse establishes transcriptional bottlenecks in malignant rhabdoid tumor.Clinical epigenetics · 2026Review
- Paediatric Therapeutic Development Workshop on rhabdoid tumours.British journal of cancer · 2026Review
- Atypical Teratoid/Rhabdoid Tumor of the Lateral Ventricle: A Case Series and Experience with Molecular Subtyping-Guided Immunotherapy.Neurology international · 2026Article
- The MALAT1-EZH2 axis regulates PRC2 activity and promotes the mesenchymal phenotype in pediatric atypical teratoid/rhabdoid tumors.Journal of neuro-oncology · 2026Article
- Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.European journal of pediatrics · 2026Article
- Histogenesis of Atypical Teratoid Rhabdoid Tumors: Anatomical and Embryological Perspectives.Cancers · 2025Article
- Targeting Ovarian Neoplasms: Subtypes and Therapeutic Options.Medicina (Kaunas, Lithuania) · 2025Review
- Brain tumor classification from FFPE samples using nanopore methylation sequencing.NAR cancer · 2025Article
- Role of immunohistochemistry in the molecular classification of atypical teratoid/rhabdoid tumor.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Article
- A rare case of atypical teratoid rhabdoid tumor (AT/RT) with homozygous SMARCB1 loss and one concurrent somatic heterozygous SMARCA4 variant.Acta neuropathologica communications · 2025Article
- Review
- Rhabdoid Tumor Predisposition Syndrome : A Comprehensive Review of Genetics, Clinical Manifestations, and Management.Journal of Korean Neurosurgical Society · 2025Article
- What Have We Learnt from the Recent Multimodal Managements of Young Patients with ATRT?Cancers · 2025Article
- Functional screening reveals genetic dependencies and diverging cell cycle control in atypical teratoid rhabdoid tumors.Genome biology · 2024Article
- Epigenetic age acceleration is a distinctive trait of epithelioid sarcoma with potential therapeutic implications.GeroScience · 2024Article
- Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- Synergistic Antitumor Activity of Talazoparib and Temozolomide in Malignant Rhabdoid Tumors.Cancers · 2024Article
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Authors and funding
22 authors at 13 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 profiles and transcriptomics, SMARCB1 mutated ATRTs have been divided into three distinct molecular subgroups: ATRT-TYR, ATRT-SHH, and ATRT-MYC. These subgroups differ in terms of age at diagnosis, tumor location, type of SMARCB1 alterations, and overall survival. ATRT-SMARCA4 are, however, less well understood, and it remains unknown, whether they belong to one of the described ATRT subgroups. Here, we examined 14 ATRT-SMARCA4 by global DNA methylation analyses. We show that they form a separate group segregating from SMARCB1 mutated ATRTs and from other SMARCA4-deficient tumors like small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) or SMARCA4 mutated extra-cranial malignant rhabdoid tumors. In contrast, medulloblastoma (MB) samples with heterozygous SMARCA4 mutations do not group separately, but with established MB subgroups. RNA sequencing of ATRT-SMARCA4 confirmed the clustering results based on DNA methylation profiling and displayed an absence of typical signature genes upregulated in SMARCB1 deleted ATRT. In summary, our results suggest that, in line with previous clinical observations, ATRT-SMARCA4 should be regarded as a distinct molecular subgroup.
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