ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2023
Expanding the Molecular Diversity of CIC-Rearranged Sarcomas With Novel and Very Rare Partners.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2023. 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, 36 citations in OpenAlex.
- Molecular Approaches to Diagnosis in Ewing Sarcoma: Fluorescence In Situ Hybridization (FISH).Methods in molecular biology (Clifton, N.J.) · 2027Article
- Undifferentiated round cell sarcoma with CIC::NUTM1 fusion: expanding the clinicopathologic spectrum of a rare molecular variant of CIC-rearranged sarcoma.Virchows Archiv : an international journal of pathology · 2026Article
- Uncommon location, diagnostic challenge: A case series of acral low-grade fibromyxoid sarcoma.Virchows Archiv : an international journal of pathology · 2026Article
- Modeling of Capicua Family Fusion Oncoprotein-Driven Cancers Reveals Gene-Specific Functionality.Molecular cancer research : MCR · 2026Article
- A primary subcutaneous sarcoma with ATXN1::DUX4 fusion: the first report in soft tissue and further evidence for a CIC/ATXN1 pathway-altered sarcoma family.Virchows Archiv : an international journal of pathology · 2026Article
- Clinicopathological features of CIC-rearranged sarcomas: a retrospective study including novel visceral locations and methylation profile analysis.Virchows Archiv : an international journal of pathology · 2026Article
- Superficially located CIC::DUX4-rearranged sarcomas in children: insights from a long-term survival case series.Virchows Archiv : an international journal of pathology · 2026Article
- Gene fusion-driven cutaneous mesenchymal neoplasms: An updated review emphasizing the emerging entities.Virchows Archiv : an international journal of pathology · 2026Review
- Ewing Sarcoma, Desmoplastic Small Round Cell Tumor, and Other Round Cell Sarcomas.Hematology/oncology clinics of North America · 2025Review
- YAP1::KMT2A-Rearranged Sarcoma: Report of a New Case With Unusual Morphology and Immunohistochemical Features.Genes, chromosomes & cancer · 2025Article
- Upregulation of POLE and proficient DNA repair are features of CIC::DUX4 sarcomas.NPJ precision oncology · 2025Article
- Ancillary Tools for the Diagnosis of CIC -Rearranged Sarcoma: A Comprehensive Review.Journal of cutaneous pathology · 2025Review
- Nuclear DUX4 immunohistochemistry is a highly sensitive and specific marker for the presence of CIC::DUX4 fusion in CIC-rearranged sarcomas: a study of 48 molecularly confirmed cases.Histopathology · 2025Article
- Primary ovarian CIC-rearranged sarcoma in a child: a rare case report and review of the literature.Frontiers in medicine · 2025Article
- Recurrent CIC-rearranged sarcoma of central nervous system: a clinicopathological case report.Frontiers in oncology · 2025Article
- Undifferentiated small round cell sarcomas in the retroperitoneal space in a 12-year-old female: a rare case report.Frontiers in pediatrics · 2025Article
- A potential conundrum in dermatopathology: molecularly confirmed superficial ossifying fibromyxoid tumors with unusual histomorphologic findings and a novel fusion.Virchows Archiv : an international journal of pathology · 2024Article
- Article
- Capicua transcriptional repressor (CIC)-rearranged sarcoma harboringTranslational cancer research · 2024Article
- Small blue round cell tumor with focal epithelial differentiation harboring a novel YAP1::LEUTX fusion with poor prognosis.Virchows Archiv : an international journal of pathology · 2024Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Capicua transcriptional repressor (CIC)-rearranged sarcoma represents a distinct pathologic entity and constitutes the second most prevalent category of undifferentiated round cell sarcomas (URCSs) after Ewing sarcoma. The 2 most common translocations are t(4;19) and t(10;19), resulting in CIC fusions with either DUX4 and DUX4L paralog, respectively; however, other rare variant fusions have also been reported. In this study, we expand the molecular spectrum of CIC-gene partners, reporting on 5 cases of URCSs showing CIC fusions with AXL, CITED1, SYK, and LEUTX by targeted RNA or DNA sequencing. There were 4 female patients and 1 male patient with a wide age range (12-70 years; median, 36 years). Four cases occurred in the deep soft tissues (lower extremity, 3; neck, 1) and 1 case in the central nervous system (midbrain/thalamus). All cases showed similar histologic findings within the spectrum of URCSs. Immunohistochemistry, showed variable positivity for ETV4 in 4 of the 4 cases and positive results for ERG in 3 of the 4 cases and for WT1 in 1 of the 4 cases. CD31 showed positivity in 2 of the 3 cases, including one coexpressing ERG. Unsupervised clustering of methylation profiles by T-distributed stochastic neighborhood embedding performed in 4 cases showed that all clustered tightly together and along the CIC sarcoma methylation class. RNA-sequencing data showed consistent upregulation of ETV1 and ETV4 mRNA in all cases examined, at similar levels to CIC::DUX4 URCSs. Our study expands the molecular diversity of CIC-rearranged URCSs to include novel and rare partners, providing morphologic, immunohistochemical, gene expression, and methylation evidence supporting their classification within the family of tumors harboring the more common DUX4/DUX4L partner genes.
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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.