ArticleNature communications2023
SMARCB1 loss activates patient-specific distal oncogenic enhancers in malignant rhabdoid tumors.
Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 26 citations in OpenAlex.
- The roles of chromatin remodeling and 3D genome organization in cancers: from mechanistic insights to emerging treatment options.Molecular cancer · 2026Review
- Functional profiling of ovarian cancer models reveals Bcl-xL/NOTCH targeting to overcome resistance.NPJ precision oncology · 2026Article
- Genetic Medicine Approaches for Tumor Suppressor Loss: Therapeutic Replacement with Self-Amplifying RNA.Pharmaceutical research · 2026Review
- Relapsed rhabdoid tumours and other non-nephroblastoma childhood and adolescent kidney tumours: perspectives from the HARMONICA collaboration.Nature reviews. Urology · 2026Review
- Epigenetic collapse establishes transcriptional bottlenecks in malignant rhabdoid tumor.Clinical epigenetics · 2026Review
- SMARCD1 and Its Functional Relevance in SWI/SNF and Cancer.International journal of molecular sciences · 2026Review
- Paediatric Therapeutic Development Workshop on rhabdoid tumours.British journal of cancer · 2026Review
- SMARCB1 missense mutants disrupt SWI/SNF complex stability and remodeling activity.Nature communications · 2026Article
- Therapeutic targeting of chromatin alterations in leukemia and solid tumors.International journal of cancer · 2026Review
- Targeting CDK11 in Rhabdoid Tumor of the Kidney.Cancers · 2026Article
- Organoids glimpse: the nexus for diverse tumor heterogeneity.Frontiers in cell and developmental biology · 2026Review
- Current treatment landscape and translational priorities in malignant rhabdoid tumor of the kidney.Frontiers in pediatrics · 2026Review
- Therapy-induced mRNA, rRNA and tRNA methylation alterations confer tolerance phenotype in tumor cells: mechanism and implications.International journal of biological sciences · 2026Review
- Treatment of extracranial rhabdoid tumor with intensive ifosfamide-containing chemotherapy regimens.Frontiers in oncology · 2026Article
- Molecular characterization and prognostic modeling of liquid-liquid phase separation-related genes in osteosarcoma based on single-cell sequencing and weighted gene co-expression network analysis.Translational cancer research · 2025Article
- A New WHO Entity of SMARCB1/INI1-Deficient Undifferentiated Thoracic Tumors: Rare, Aggressive, and Overlooked.Cureus · 2025Article
- An aggressive hematolymphoid neoplasm with homozygousHaematologica · 2025Article
- SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.Familial cancer · 2025Review
- Glioblastoma: A Multidisciplinary Approach to Its Pathophysiology, Treatment, and Innovative Therapeutic Strategies.Biomedicines · 2025Review
- Article
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
Malignant rhabdoid tumor (MRT) is a highly malignant and often lethal childhood cancer. MRTs are genetically defined by bi-allelic inactivating mutations in SMARCB1, a member of the BRG1/BRM-associated factors (BAF) chromatin remodeling complex. Mutations in BAF complex members are common in human cancer, yet their contribution to tumorigenesis remains in many cases poorly understood. Here, we study derailed regulatory landscapes as a consequence of SMARCB1 loss in the context of MRT. Our multi-omics approach on patient-derived MRT organoids reveals a dramatic reshaping of the regulatory landscape upon SMARCB1 reconstitution. Chromosome conformation capture experiments subsequently reveal patient-specific looping of distal enhancer regions with the promoter of the MYC oncogene. This intertumoral heterogeneity in MYC enhancer utilization is also present in patient MRT tissues as shown by combined single-cell RNA-seq and ATAC-seq. We show that loss of SMARCB1 activates patient-specific epigenetic reprogramming underlying MRT tumorigenesis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.