ArticleNPJ precision oncology2022
Multi-site desmoplastic small round cell tumors are genetically related and immune-cold.
Article in NPJ precision oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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The trial behind it
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Who cites it
21 citing papers in PubMed, 25 citations in OpenAlex.
- Review
- Multi-layered molecular profiling informs the diagnosis and targeted therapy of desmoplastic small round cell tumor.Nature communications · 2026Article
- Harnessing AACR Project GENIE to Define the Molecular Features of Desmoplastic Small Round Cell Tumor.Current issues in molecular biology · 2026Article
- An Autopsy Case of a Desmoplastic Small Round Cell Tumor with a Rapid Fatal Outcome due to Diffuse Cystic Liver Metastases.Internal medicine (Tokyo, Japan) · 2025Article
- Spectrum and Clinical Impact of Secondary Genetic Alterations in Translocation-Associated Sarcomas.JCO precision oncology · 2025Article
- EWS::WT1 Isoform-Dependent Regulation of Neogenes in Desmoplastic Small Round Cell Tumors.bioRxiv : the preprint server for biology · 2025Article
- Desmoplastic Small Round Cell Tumors and the Role of Androgen Receptors.Current treatment options in oncology · 2025Review
- Somatic gene delivery faithfully recapitulates a molecular spectrum of high-risk sarcomas.Nature communications · 2025Article
- Replication Stress Is an Actionable Genetic Vulnerability in Desmoplastic Small Round Cell Tumors.Cancer research · 2025Article
- Recent advances in sarcoma therapy: new agents, strategies and predictive biomarkers.Journal of hematology & oncology · 2024Review
- Single-cell multiomics profiling reveals heterogeneous transcriptional programs and microenvironment in DSRCTs.Cell reports. Medicine · 2024Article
- Comprehensive Transcriptomic Analysis of EWSR1::WT1 Targets Identifies CDK4/6 Inhibitors as an Effective Therapy for Desmoplastic Small Round Cell Tumors.Cancer research · 2024Article
- Enzalutamide induces cytotoxicity in desmoplastic small round cell tumor independent of the androgen receptor.Communications biology · 2024Article
- Desmoplastic small round cell tumor: from genomics to targets, potential paths to future therapeutics.Frontiers in cell and developmental biology · 2024Review
- Gene partners of the EWSR1 fusion may represent molecularly distinct entities.Translational oncology · 2023Article
- Enzalutamide Induces Cytotoxicity in Desmoplastic Small Round Cell Tumor Independent of the Androgen Receptor.bioRxiv : the preprint server for biology · 2023Article
- Desmoplastic small round cell tumor of the liver: diagnosing a rare case on liver biopsy.Diagnostic pathology · 2023Article
- Genomic Breakpoint Characterization and Transcriptome Analysis of Metastatic, Recurrent Desmoplastic Small Round Cell Tumor.Sarcoma · 2023Article
- Identification of immunotherapy and radioimmunotherapy targets on desmoplastic small round cell tumors.Frontiers in oncology · 2023Article
- Small round cell sarcomas.Nature reviews. Disease primers · 2022Review
Corrections and comments
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Authors and funding
17 authors at 1 institution in 1 country.
Funding
Abstract
Desmoplastic small round cell tumor (DSRCT) is a highly aggressive soft tissue sarcoma that is characterized by the EWSR1-WT1 fusion protein. Patients present with hundreds of tumor implants in their abdominal cavity at various sites. To determine the genetic relatedness among these sites, exome and RNA sequencing were performed on 22 DSRCT specimens from 14 patients, four of whom had specimens from various tissue sites. Multi-site tumors from individual DSRCT patients had a shared origin and were highly related. Other than the EWSR1-WT1 fusion, very few secondary cancer gene mutations were shared among the sites. Among these, ARID1A, was recurrently mutated, which corroborates findings by others in DSRCT patients. Knocking out ARID1A in JN-DSRCT cells using CRISPR/CAS9 resulted in significantly lower cell proliferation and increased drug sensitivity. The transcriptome data were integrated using network analysis and drug target database information to identify potential therapeutic opportunities in EWSR1-WT1-associated pathways, such as PI3K and mTOR pathways. Treatment of JN-DSRCT cells with the PI3K inhibitor alpelisib and mTOR inhibitor temsirolimus reduced cell proliferation. In addition, the low mutation burden was associated with an immune-cold state in DSRCT. Together, these data reveal multiple genomic and immune features of DSRCT and suggest therapeutic opportunities in patients.
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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.