ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2022
Comprehensive genomic profiling of EWSR1/FUS::CREB translocation-associated tumors uncovers prognostically significant recurrent genetic alterations and methylation-transcriptional correlates.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 40 citations in OpenAlex.
- Establishment of Salivary Gland Tumors Arising in Salivary Gland-Specific EWSR1::ATF1 Transgenic Mice.Head & neck · 2026Article
- [Cutaneous clear cell sarcoma].Pathologie (Heidelberg, Germany) · 2026Review
- CRTC1::TRIM11 Cutaneous Tumors With Atypia: Melanoma Mimicry, Aggressive Potential, and Methylation Classifier Limitations.Genes, chromosomes & cancer · 2026Article
- Identification of a distinct epigenetic subgroup with inferior PFS in intracranial mesenchymal tumors with FET::CREB fusion.Brain pathology (Zurich, Switzerland) · 2026Article
- Expanding the spectrum of FUS::CREM-rearranged neoplasms: a case of mesenchymal malignant tumor with neuroendocrine differentiation.Virchows Archiv : an international journal of pathology · 2025Article
- Angiomatoid fibrous histiocytoma occurring at distal/acral extremity sites: clinicopathological and molecular study of 26 cases highlighting frequent myxoid histology and site-dependent genotypic variation.Virchows Archiv : an international journal of pathology · 2025Article
- Phosphofructokinase-1 redefined: a metabolic hub orchestrating cancer hallmarks through multi-dimensional control networks.Journal of translational medicine · 2025Review
- YAP1::KMT2A-Rearranged Sarcoma: Report of a New Case With Unusual Morphology and Immunohistochemical Features.Genes, chromosomes & cancer · 2025Article
- [Challenges in the research and diagnosis of rare diseases].Pathologie (Heidelberg, Germany) · 2025Article
- Review
- Reappraisal of soft tissue myoepithelial tumors by DNA methylation profiling reveals an epigenetically distinct group of mostly fusion-driven neoplasms.Virchows Archiv : an international journal of pathology · 2025Article
- EWSR1::CREM rearranged intra-abdominal malignant epithelioid neoplasm: two new cases of an emerging entity with clinicopathological characteristics and histological pitfalls.Virchows Archiv : an international journal of pathology · 2025Article
- Establishing preclinical models for clear cell sarcoma of soft tissue.Frontiers in oncology · 2025Article
- Expanding the clinicopathologic spectrum and genomic landscape of tumors with SMARCA2/4::CREM fusions.The Journal of pathology · 2024Article
- Malignant Epithelioid Mesenchymal Neoplasm with FUS::CREM Gene Fusion Arising in the Tongue: A Case Report Detailing Clinicopathological, Imaging, and Molecular Features.Head and neck pathology · 2024Article
- Fusion-driven cutaneous and superficial mesenchymal and adnexal tumors-A clinicopathologic and molecular study of 15 cases, including a novel case of ACTB::ZMIZ2-rearranged adnexal carcinoma.Journal of cutaneous pathology · 2024Article
- Modeling Extraordinary Response Through Targeting Secondary Alterations in Fusion-Associated Sarcoma.JCO precision oncology · 2024Article
- Epigenetic determinants of fusion-driven sarcomas: paradigms and challenges.Frontiers in cell and developmental biology · 2024Article
- EWSR1::ATF1 Orchestrates the Clear Cell Sarcoma Transcriptome in Human Tumors and a Mouse Genetic Model.Cancers · 2023Article
- DNA Methylation Profiling Distinguishes Adamantinoma-Like Ewing Sarcoma From Conventional Ewing Sarcoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2023Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
Abstract
To elucidate the mechanisms underlying the divergent clinicopathologic spectrum of EWSR1/FUS::CREB translocation-associated tumors, we performed a comprehensive genomic analysis of fusion transcript variants, recurrent genetic alterations (mutations, copy number alterations), gene expression, and methylation profiles across a large cohort of tumor types. The distribution of the EWSR1/FUS fusion partners-ATF1, CREB1, and CREM-and exon involvement was significantly different across different tumor types. Our targeted sequencing showed that secondary genetic events are associated with tumor type rather than fusion type. Of the 39 cases that underwent targeted NGS testing, 18 (46%) had secondary OncoKB mutations or copy number alterations (29 secondary genetic events in total), of which 15 (52%) were recurrent. Secondary recurrent, but mutually exclusive, TERT promoter and CDKN2A mutations were identified only in clear cell sarcoma (CCS) and associated with worse overall survival. CDKN2A/B homozygous deletions were recurrent in angiomatoid fibrous histiocytoma (AFH) and restricted to metastatic cases. mRNA upregulation of MITF, CDH19, PARVB, and PFKP was found in CCS, compared to AFH, and correlated with a hypomethylated profile. In contrast, S100A4 and XAF1 were differentially upregulated and hypomethylated in AFH but not CCS. Unsupervised clustering of methylation profiles revealed that CREB family translocation-associated tumors form neighboring but tight, distinct clusters. A sarcoma methylation classifier was able to accurately match 100% of CCS cases to the correct methylation class; however, it was suboptimal when applied to other histologies. In conclusion, our comprehensive genomic profiling of EWSR1/FUS::CREB translocation-associated tumors uncovered mostly histotype, rather than fusion-type associated correlations in transcript variants, prognostically significant secondary genetic alterations, and gene expression and methylation patterns.
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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 Socratic graph.