ArticleGenes, chromosomes & cancer2017
ETV transcriptional upregulation is more reliable than RNA sequencing algorithms and FISH in diagnosing round cell sarcomas with CIC gene rearrangements.
Article in Genes, chromosomes & cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 66 citations in OpenAlex.
- (Immuno-)Histological Analysis of Ewing Sarcoma.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
- 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
- Comparison of gene fusion detection algorithms reveals frequently overlooked driver fusions in hematologic malignancies.NPJ precision oncology · 2026Article
- Gene fusion-driven cutaneous mesenchymal neoplasms: An updated review emphasizing the emerging entities.Virchows Archiv : an international journal of pathology · 2026Review
- 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
- MUC5AC immunoreactivity in scattered tumor cells is useful for diagnosing CIC-rearranged sarcoma.Virchows Archiv : an international journal of pathology · 2024Article
- Machine Learning-Supported Diagnosis of Small Blue Round Cell Sarcomas Using Targeted RNA Sequencing.The Journal of molecular diagnostics : JMD · 2024Article
- Development and characterization of an ETV1 rabbit monoclonal antibody for the immunohistochemical detection of ETV1 expression in cancer tissue specimens.Journal of immunological methods · 2023Article
- Expanding the Molecular Diversity of CIC-Rearranged Sarcomas With Novel and Very Rare Partners.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2023Article
- Ewing and Ewing-like sarcomas: A morphological guide through genetically-defined entities.Pathology international · 2023Review
- An international working group consensus report for the prioritization of molecular biomarkers for Ewing sarcoma.NPJ precision oncology · 2022Review
- Integrated Molecular Characterization of Patient-Derived Models Reveals Therapeutic Strategies for Treating CIC-DUX4 Sarcoma.Cancer research · 2022Article
- A case report ofFrontiers in oncology · 2022Article
- Primary cardiacPediatric investigation · 2021Article
- E26 transformation-specific variant 4 as a tumor promotor in human cancers through specific molecular mechanisms.Molecular therapy oncolytics · 2021Review
- [New in the current WHO classification (2020) for soft tissue sarcomas].Der Pathologe · 2021Review
- A novel ATXN1-DUX4 fusion expands the spectrum of 'CIC-rearranged sarcoma' of the CNS to include non-CIC alterations.Acta neuropathologica · 2021Article
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Authors and funding
12 authors at 6 institutions in 4 countries.
Funding
Abstract
CIC rearrangements have been reported in two-thirds of EWSR1-negative small blue round cell tumors (SBRCTs). However, a number of SBRCTs remain unclassified despite exhaustive analysis. Fourteen SBRCTs lacking driver genetic events by RNA sequencing (RNAseq) analysis were collected. Unsupervised hierarchical clustering was performed using samples from our RNAseq database, including 13 SBRCTs with non-CIC genetic abnormalities and 2 CIC-rearranged angiosarcomas among others. Remarkably, all 14 study cases showed high mRNA levels of ETV1/4/5, and by unsupervised clustering most grouped into a distinct cluster, separate from other tumors. Based on these results indicating a close relationship with CIC-rearranged tumors, we manually inspected CIC reads in RNAseq data. FISH for CIC and DUX4 abnormalities and immunohistochemical stains for ETV4 were also performed. In the control group, only 2 CIC-rearranged angiosarcomas had high ETV1/4/5 expression. Upon manual inspection of CIC traces, 7 of 14 cases showed CIC-DUX4 fusion reads, 2 cases had DUX4-CIC reads, while the remaining 5 were negative. FISH showed CIC break-apart in 7 cases, including 5 cases lacking CIC-DUX4 or DUX4-CIC fusion reads on RNAseq manual inspection. However, no CIC abnormalities were detected by FISH in 6 cases with CIC-DUX4 or DUX4-CIC reads. ETV4 immunoreactivity was positive in 7 of 11 cases. Our results highlight the underperformance of FISH and RNAseq methods in diagnosing SBRCTs with CIC gene abnormalities. The downstream ETV1/4/5 transcriptional up-regulation appears highly sensitive and specific and can be used as a reliable molecular signature and diagnostic method for CIC fusion positive SBRCTs.
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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.