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BIOMARKER:

EWSR1-NR4A3 fusion

i
Entrez ID:
Related biomarkers:
9ms
FDG PET/CT and MRI Findings of Extraskeletal Myxoid Chondrosarcoma Showing a Nonmyxoid Cellular Variant. (PubMed, Clin Nucl Med)
Although biopsy was inconclusive, a highly malignant tumor was suspected radiologically. The resected specimen was histologically diagnosed as extraskeletal myxoid chondrosarcoma by detection of EWSR1::NR4A3 fusion using fluorescence in situ hybridization.
Journal • FDG PET
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EWSR1 (EWS RNA Binding Protein 1) • NR4A3 (Nuclear receptor subfamily 4 group A member 3)
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EWSR1-NR4A3 fusion
almost2years
Extraskeletal Myxoid Chondrosarcomas: the Uncommon Clinicopathologic Manifestations and significance of TAF15::NR4A3 Fusion. (PubMed, Mod Pathol)
Conclusively, EMC may manifest superficial or osseous lesions harboring EWSR1::NR4A3, under-recognized solid or anaplastic histology, and pan-Trk expression, posing tremendous challenges. Most TAF15::NR4A3-positive cases were >10 cm in size, i.e., the crucial independent prognosticator, while pathogenic KIT mutation rarely occurred.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • EWSR1 (EWS RNA Binding Protein 1) • NR4A3 (Nuclear receptor subfamily 4 group A member 3) • TAF15 (TATA-Box Binding Protein Associated Factor 15)
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KIT mutation • EWSR1-NR4A3 fusion
2years
Extraskeletal myxoid chondrosarcoma: a study of 17 cases focusing on the diagnostic utility of INSM1 expression and presenting rare morphological variants associated with non-EWSR1::NR4A3 fusions. (PubMed, Hum Pathol)
Thus, the diagnostic utility of INSM1 is rather low. Two morphologically unique cases of non-EWSR1 rearranged EMC with an extremely rare pseudopapillary growth pattern are also reported.
Journal
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EWSR1 (EWS RNA Binding Protein 1) • NR4A3 (Nuclear receptor subfamily 4 group A member 3) • TAF15 (TATA-Box Binding Protein Associated Factor 15) • INSM1 (INSM Transcriptional Repressor 1)
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EWSR1-NR4A3 fusion
over2years
A single-institution experience with 11 cases of extraskeletal myxoid chondrosarcoma: rare fusions, unusual morphology and the utility of INSM1 immunohistochemistry (ECP 2022)
Our analysis confirms that most cases of EMC are positive for INSM1. However, the diagnostic utility of this marker is limited by the fact that only 50% of cases show a strong INSM1 expression in most tumour cells. Furthermore, our study highlights that EMC with alternative gene partners may present with unusual morphology.
Clinical
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EWSR1 (EWS RNA Binding Protein 1) • NR4A3 (Nuclear receptor subfamily 4 group A member 3) • TAF15 (TATA-Box Binding Protein Associated Factor 15) • INSM1 (INSM Transcriptional Repressor 1)
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EWSR1-NR4A3 fusion • KIT fusion
over2years
Mutation of KIT in cellular extraskeletal myxoid chondrosarcoma: a case report and literature review. (PubMed, Diagn Pathol)
Molecular detection is an indispensable technique for diagnosing cellular EMCs. The KIT mutations noted in this case report may offer fresh insights into EMCs treatment options.
Review • Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • WT1 (WT1 Transcription Factor) • EWSR1 (EWS RNA Binding Protein 1) • CD34 (CD34 molecule) • NCAM1 (Neural cell adhesion molecule 1) • NR4A3 (Nuclear receptor subfamily 4 group A member 3) • VIM (Vimentin) • STAT6 (Signal transducer and activator of transcription 6) • CD99 (CD99 Molecule)
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KIT mutation • KIT exon 13 mutation • KIT expression • VIM expression • EWSR1-NR4A3 fusion • KIT fusion
over3years
[VIRTUAL] Extraskeletal Myxoid Chondrosarcoma of Bone, Osseous Myxochondroid Sarcoma/Chordoid Sarcoma of Bone, With Variant TAF15-NR4A3 Fusion: Report of an Eighth Case With 5-Year Follow-up (CAP 2021)
Five-year follow-up includes locoregional recurrences 3 and 5 years postoperatively as well as recent lung metastases status post metastasectomy (Figure 3.14, D) and is currently NED. This case is valuable given its extremely unusual presentation in bone and its variant fusion status, and it highlights the indolent but clearly malignant behavior of this rare translocation sarcoma.
Clinical
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EWSR1 (EWS RNA Binding Protein 1) • NR4A3 (Nuclear receptor subfamily 4 group A member 3) • TAF15 (TATA-Box Binding Protein Associated Factor 15)
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EWSR1-NR4A3 fusion • TAF15-NR4A3 fusion
4years
[VIRTUAL] A Unique Case Report of Extraskeletal Myxoid Chondrosarcoma Mimicking a Metastatic Poorly Differentiated Carcinoma (CAP 2020)
Although focal EMA expression in extraskeletal myxoid chondrosarcoma has been well described in the literature, this case illustrates that these tumors are capable of more-diffuse expression of epithelial antigens. In the context of this patient's unique anatomic site of presentation and cellular morphology, this phenomenon poses a diagnostic pitfall to the unsuspecting pathologist.
Clinical
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EWSR1 (EWS RNA Binding Protein 1) • NR4A3 (Nuclear receptor subfamily 4 group A member 3)
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EWSR1-NR4A3 fusion
4years
[VIRTUAL] STRAIGHT TO THE LUNGS: UNUSUAL ETIOLOGY OF BILATERAL PULMONARY OPACITIES (CHEST 2020)
Patient followed up with an orthopedic oncologist and is currently on sunitinib, considering future wide local excision. Soft tissue sarcomas are rare, comprising 1% of adult malignancies with EMC accountable for <2% of all soft tissue sarcomas... We reported this rare etiology, its pathology and the diagnosis of bilateral pulmonary opacities, found to be metastatic EMC.
IO biomarker
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • BCL2 (B-cell CLL/lymphoma 2) • EWSR1 (EWS RNA Binding Protein 1) • NR4A3 (Nuclear receptor subfamily 4 group A member 3) • SDC1 (Syndecan 1) • VIM (Vimentin)
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EWSR1-NR4A3 fusion
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sunitinib