ReviewDiagnostic pathology2024
Report and literature review of four cases of EWSR1::NFATC2 round cell sarcoma.
Review in Diagnostic pathology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Identification of ATP9A-NFATC2 gene fusion transcript in Behcet's disease, a subtype of uveitis.Indian journal of ophthalmology · 2026Article
- Axial Round Cell Sarcoma Harboring a Non-ETS EWSR1 Rearrangement: Diagnostic Challenges and Clinical Implications.Cureus · 2026Article
- Emerging round cell sarcomas in children.Virchows Archiv : an international journal of pathology · 2025Review
- The implications of abnormal signal patterns of break-apart FISH probes used in the diagnosis of bone and soft tissue tumours.Pathology oncology research : POR · 2025Article
- Undifferentiated small round cell sarcomas in the retroperitoneal space in a 12-year-old female: a rare case report.Frontiers in pediatrics · 2025Article
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7 authors.
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Abstract
backgroundEWSR1::NFATC2 rearranged sarcomas are a group of rare round, undifferentiated sarcomas with clinicopathological features different from those of Ewing's sarcoma (ES) family and other non-ES sarcomas. We report 4 cases of this rare sarcoma and review their features. MATERIALS AND
methodsFour cases of EWSR1::NFATC2 rearranged round cell sarcoma of the bone from the Pathology Department of Peking University People's Hospital were retrospectively studied. Clinical and pathological data were summarized, and immunohistochemical staining, fluorescence in situ hybridization (FISH), and Next-generation sequencing (NGS) were performed. Relevant literature reports were also reviewed.
resultsAmong the four cases of EWSR1::NFATC2 rearranged round cell sarcoma, three were male, and one was female, with the age ranged from 14 to 34 years old at diagnosis (mean age: 27.5 years). All tumors were located in the femur and ranged in size from 4 to 8cm (mean 6cm), involving the surrounding soft tissues. All four patients underwent surgical treatment, and three received chemotherapy and radiotherapy postoperatively. Follow-up results showed that all four patients were alive. Histologically, the tumors exhibited small round cell sarcoma phenotype, with the stroma rich in mucin or exhibiting a glassy appearance. The tumor cells diffusely expressed CD99, NKX2.2, NKX3.1 and focal expression of CK and EMA was observed. FISH analysis showed that EWSR1 gene rearrangement was detected in all 4 cases, accompanied by 5' locus amplification. EWSR1::NFATC2 fusion probe demonstrated multi yellow fusion signals. NGS identified EWSR1::NFATC2 breakpoints in exon 9 and exon 3 in all 4 cases. The average follow-up duration of the study group was 88 months (range from 26-180 months). One case experienced both local recurrence and metastasis to the lung and chest wall. One case presented with local recurrence. The remaining two cases did not have the recurrence or metastasis.
conclusionAlthough the disease can locally recur and metastasize to the lungs, its mortality rate is significantly lower than that of Ewing sarcoma and other high-grade small round cell undifferentiated sarcomas. Therefore, it supports to classify this tumor as a separate subtype of small round cell sarcoma.
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