ArticleThe American journal of surgical pathology2019
Cutaneous Syncytial Myoepithelioma Is Characterized by Recurrent EWSR1-PBX3 Fusions.
Article in The American journal of surgical pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 50 citations in OpenAlex.
- Cutaneous basaloid neoplasms with epithelial differentiation and EWSR1-fusions: a series of four cases.Virchows Archiv : an international journal of pathology · 2026Article
- FET-Rearranged Myoepithelial Tumors Are Clinically Heterogeneous and Epigenetically Distinct from PLAG1-Rearranged Adnexal and Salivary Gland Myoepithelial Tumors.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Article
- Myoepithelial tumor withFrontiers in oncology · 2026Article
- CD34-Positive Acral Chondromyxoid Mesenchymal Neoplasm Harboring a Novel TCF4::ERG Fusion.Genes, chromosomes & cancer · 2025Article
- Reappraisal of soft tissue myoepithelial tumors by DNA methylation profiling reveals an epigenetically distinct group of mostly fusion-driven neoplasms.Virchows Archiv : an international journal of pathology · 2025Article
- Fusion-driven cutaneous and superficial mesenchymal and adnexal tumors-A clinicopathologic and molecular study of 15 cases, including a novel case of ACTB::ZMIZ2-rearranged adnexal carcinoma.Journal of cutaneous pathology · 2024Article
- Complementary value of molecular analysis to expert review in refining classification of uncommon soft tissue tumors.Genes, chromosomes & cancer · 2024Article
- Non-cutaneous syncytial myoepitheliomas are identical to cutaneous counterparts: a clinicopathologic study of 24 tumors occurring at diverse locations.Virchows Archiv : an international journal of pathology · 2023Article
- Cutaneous Syncytial Myoepithelioma with Positive CD34 Immunohistochemical Staining: An Unusual Tumor and a Challenging Diagnosis.Dermatopathology (Basel, Switzerland) · 2023Article
- Cutaneous Syncytial Myoepithelioma: A Unique Variant Worth Recognizing.Dermatopathology (Basel, Switzerland) · 2023Article
- A novel IRF2BP2::CDX2 Gene fusion in digital intravascular myoepithelioma of soft tissue: An enigma!Genes, chromosomes & cancer · 2023Article
- Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors.Cancers · 2022Review
- Current Diagnosis and Treatment Options for Cutaneous Adnexal Neoplasms with Apocrine and Eccrine Differentiation.International journal of molecular sciences · 2021Review
- Epithelioid Cutaneous Mesenchymal Neoplasms: A Practical Diagnostic Approach.Diagnostics (Basel, Switzerland) · 2020Review
- Soft Tissue Special Issue: Myoepithelial Neoplasms of Soft Tissue: An Updated Review with Emphasis on Diagnostic Considerations in the Head and Neck.Head and neck pathology · 2020Review
- PBX3 in Cancer.Cancers · 2020Review
- Cutaneous soft tissue tumors: diagnostically disorienting epithelioid tumors that are not epithelial, and other perplexing mesenchymal lesions.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Review
- Article
- A Solitary, Painless Nodule on the Arm of an Adolescent Male.Pediatric dermatologyArticle
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
Cutaneous syncytial myoepithelioma (CSM) is a rare but distinctive benign variant in the family of myoepithelial neoplasms of skin and soft tissue. CSM has unique morphologic and immunohistochemical features, characterized by intradermal syncytial growth of spindled, ovoid, and histiocytoid cells and consistent staining for S-100 protein and EMA, and differs from other myoepithelial tumors by showing only infrequent keratin staining. Rearrangement of the EWSR1 gene is now known to occur in up to half of all skin and soft tissue myoepithelial tumors, with a wide family of documented fusion partners. In 2013, we reported frequent (80%) EWSR1 rearrangements in CSM, but were unable to identify the fusion partner using available studies at that time. After recent identification of an index case of CSM harboring an EWSR1-PBX3 fusion, we used a combination of targeted RNA sequencing and fluorescence in situ hybridization (FISH) studies to investigate the genetic features of a cohort of CSM. An EWSR1-PBX3 fusion was identified in all 13 cases successfully tested. RNA sequencing was successful in 8/13 cases, all of which were found to have identical breakpoints fusing exon 8 of EWSR1 to exon 5 of PBX3. FISH confirmed both EWSR1 and PBX3 rearrangements in 9/9 cases tested, which included 4 confirmed to have EWSR1-PBX3 fusion by RNA-Seq, 3 cases that failed RNA-Seq, and 2 cases examined by FISH alone. Two cases failed RNA sequencing but had no additional tissue remaining for FISH studies. Our findings demonstrate that EWSR1-PBX3 fusions occur in most (and possibly all) cases of CSM.
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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.