ArticleThe Journal of molecular diagnostics : JMD2002
Molecular diagnosis of clear cell sarcoma: detection of EWS-ATF1 and MITF-M transcripts and histopathological and ultrastructural analysis of 12 cases.
Article in The Journal of molecular diagnostics : JMD, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04274023 (Phase II Study on TSR-042 in Advanced Clear Cell Sarcoma), which is not on this map. Cited by 47 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Phase II Study on TSR-042 in Advanced Clear Cell Sarcoma
Who cites it
47 citing papers in PubMed, 199 citations in OpenAlex.
- FDG PET/CT as the Decisive Modality in Distinguishing Clear Cell Sarcoma from Melanoma When Immunohistochemistry Overlaps: A Case Report.World journal of nuclear medicine · 2026Article
- Rhabdomyosarcoma With EWSR1::NF2 Gene Fusion: A Case Report Potentially Expanding Its Genetic Spectrum.Genes, chromosomes & cancer · 2025Article
- Review
- Malignant melanoma: An important differential diagnosis for clear cell sarcoma of the gastrointestinal tract.World journal of clinical cases · 2024Article
- Clear Cell Sarcoma of the Soft Tissue in the Distal Phalanx of the Great Toe: A Case Report.Journal of the Korean Society of Radiology · 2024Article
- Shedding light on pancreatic metastasis of clear cell sarcoma: An exceptional journey.World journal of clinical cases · 2024Article
- Clear cell sarcoma metastasizing to the pancreas.World journal of clinical cases · 2024Article
- A Comparison of Clear Cell Sarcoma to Jaw and Salivary Tumors Bearing EWS Fusions.Head and neck pathology · 2024Review
- Modeling sarcoma relevant translocations using CRISPR-Cas9 in human embryonic stem derived mesenchymal precursors.Genes, chromosomes & cancer · 2023Review
- Comprehensive genomic profiling of EWSR1/FUS::CREB translocation-associated tumors uncovers prognostically significant recurrent genetic alterations and methylation-transcriptional correlates.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Intracranial mesenchymal tumors with FET-CREB fusion are composed of at least two epigenetic subgroups distinct from meningioma and extracranial sarcomas.Brain pathology (Zurich, Switzerland) · 2022Article
- An integrative histopathological and epigenetic characterization of primary intracranial mesenchymal tumors, FET:CREB-fused broadening the spectrum of tumor entities in comparison with their soft tissue counterparts.Brain pathology (Zurich, Switzerland) · 2022Article
- Article
- Intracranial mesenchymal tumor with FET-CREB fusion-A unifying diagnosis for the spectrum of intracranial myxoid mesenchymal tumors and angiomatoid fibrous histiocytoma-like neoplasms.Brain pathology (Zurich, Switzerland) · 2021Article
- Molecular mechanisms underpinning sarcomas and implications for current and future therapy.Signal transduction and targeted therapy · 2021Review
- Potential application of genomic profiling for the diagnosis and treatment of patients with sarcoma.Oncology letters · 2021Article
- Rationale for Early Detection ofCancers · 2021Review
- Malignant gastrointestinal neuroectodermal tumor with BRAF mutation and a history of malignant melanoma: A case report.Molecular and clinical oncology · 2021Article
- Primary clear cell sarcoma of the femur: a unique case with RT-PCR and direct sequencing confirmation of EWSR1/ATF1 fusion gene.BMC musculoskeletal disorders · 2021Article
- Molecular Targets for Novel Therapeutics in Pediatric Fusion-Positive Non-CNS Solid Tumors.Frontiers in pharmacology · 2021Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Clear cell sarcoma (CCS), also known as melanoma of soft parts, is an uncommon deep soft tissue tumor presenting typically in the lower extremities of young adults. Previous cytogenetic studies have established the specificity of the recurrent t(12;22)(q13;q12), resulting in a EWS-ATF1 fusion, for CCS. The prevalence of the EWS-ATF1 fusion in CCS remains unclear, since most genetically confirmed CCS have been reported as isolated cytogenetic or molecular diagnostic case reports. We therefore studied histologically confirmed CCS from 12 patients for the presence of EWS-ATF1 by reverse-transcriptase polymerase chain reaction (RT-PCR), using RNA extracted from either frozen (four cases) or formalin-fixed paraffin-embedded (eight cases) material. All primary tumors were located in the deep soft tissues of the extremities. Histologically, 10 cases had a typical epithelioid nested appearance. Most or all cases showed immunostaining for HMB45 (12 of 12), S-100 protein (10 of 12), and MITF (12 of 12). Ultrastructural analysis showed melanosomes in six of seven cases. The presence of an EWS-ATF1 fusion transcript was identified by RT-PCR in 11 of 12 cases (91%), all of which showed the same fusion transcript structure, namely the previously described in-frame fusion of EWS exon 8 to ATF1 codon 65. RT-PCR analysis for the melanocyte-specific splice form of the MITF transcript was positive in all cases tested (4 of 4). These data confirm that EWS-ATF1 detection can be used as a highly sensitive diagnostic test for CCS and that CCS expresses the melanocyte-specific form of the MITF transcript, further supporting its genuine melanocytic differentiation.
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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.