Ask about this productRelated genes to: EWSR1 Blocking Peptide
- Gene:
- EWSR1 NIH gene
- Name:
- EWS RNA binding protein 1
- Previous symbol:
- -
- Synonyms:
- EWS
- Chromosome:
- 22q12.2
- Locus Type:
- gene with protein product
- Date approved:
- 1992-11-27
- Date modifiied:
- 2016-04-25
Related products to: EWSR1 Blocking Peptide
Related articles to: EWSR1 Blocking Peptide
- In soft tissue pathology, MUC4 is considered a sensitive and specific immunohistochemical marker for low-grade fibromyxoid sarcoma (LGFMS) and sclerosing epithelioid fibrosarcoma (SEF), which are characterized by FUS/EWSR1::CREB3L2/1 fusions. Recently, MUC4-positive fibroblastoma has been proposed as a novel entity, and we herein describe 7 cases that align with this disease concept. These tumors occurred in 7 female patients aged 14 to 60 years, and they were located in the neck (2 cases), temple, arm, chest wall, pharynx, and thigh, with 5 being deep-seated. All tumors were surgically removed. No patients experienced recurrence during follow-up periods of 2 to 113 months. The well-circumscribed tumors comprised hypocellular fibrous tissue, populated by nonatypical spindle cells. Myxoid stroma was absent. Common features included thin-walled patent vessels, extremely long vessels, and mast cells. In some cases, fat entrapment/overgrowth was conspicuous. All tumors tested positive for MUC4 and nuclear β-catenin expression. The tumors were molecularly investigated with fluorescence in situ hybridization, RNA sequencing, DNA panel sequencing, DNA methylation analysis, and/or nanopore sequencing. Genetic analysis showed the absence of FUS/EWSR1 fusions in all 7 cases. All 5 tested tumors harbored APC alterations, with 3 having inactivating mutations and 2 showing copy number loss. DNA methylation profiles of 2 tumors did not match those of any references, including LGFMS or SEF, as indicated by t-SNE. Overall, our study supports the recent proposal of MUC4-positive fibroblastoma as a distinct entity and further delineates its phenotypic and molecular characteristics. These tumors should be distinguished from LGFMS, SEF, desmoid fibromatosis, and other fibrous or fibroadipose tumors. - Source: PubMed
Publication date: 2026/05/04
Yoshida AkihikoMakise NaohiroYoshida Ken-IchiSakai AzusaNakatani FumihikoTamiya HironariYonemoto TsukasaKawai AkiraSatomi KaishiIchimura KoichiKubo TakashiIchikawa Hitoshi - FET::ETS-rearranged Ewing sarcoma (ES) and non-Ewing undifferentiated small round-cell sarcomas (SRCSs) comprise a morphologically overlapping yet molecularly diverse group of aggressive sarcomas. They differ in genotype, anatomic distribution, age profile, and clinical behavior. Clarifying genotype-anatomic correlations-particularly distinctions between ES and non-Ewing SRCSs, as well as between skeletal and extraskeletal presentations within the Ewing group-is essential for accurate diagnosis and treatment planning, especially in morphologically ambiguous cases. - Source: PubMed
Publication date: 2026/04/27
Ali Rola HAl-Otaibi Hind SAbdulmoneim Samer A KMohammed Eiman M AAlsaber Ahmad RHassan AbdulazizKhalifa NisreenAli Abdullah AAhmed Amir ABahzad ShakirAlenezi Fahad GAlNassar MuathAlJassim Abdulaziz - Ewing sarcoma is a highly aggressive pediatric bone tumor that most commonly affects children and adolescents. It is characterized by the chromosomal translocation t(11;22)(q24;q12), resulting in the EWSR1-FLI1 fusion gene, and is typically associated with strong CD99 immunopositivity. Involvement of visceral organs, particularly the gastrointestinal tract, is extremely rare and remains underreported in literature. We present a case of a 5-year-old female with an unusual retro-gastric extraosseous Ewing sarcoma (EES). The diagnosis was confirmed via histopathological analysis following clinical and radiological evaluation The patient was treated with systemic chemotherapy followed by surgical management. This case highlights a rare and atypical presentation of visceral EES originating from the stomach in the pediatric age group. Also, this case demonstrates the feasibility of laparoscopic resection in pediatric visceral EES following neoadjuvant chemotherapy. - Source: PubMed
Publication date: 2026/05/12
Khirallah Mohammad GhariebAlqahtani AlhanoufAlali HaneenAlaiban Hissah AbdulazizAlfadda Tariq Ibrahim - - Source: PubMed
Publication date: 2026/05/11
Pálinkás ZsófiaSzentkereszty MártonPapp EszterBáthory-Fülöp LászlóPintér TamásCsernák ErzsébetTóth ErikaMelegh Zsombor - Myoepithelial tumors (MET) of soft tissue and bone comprise a rare group of neoplasms unified by partially overlapping morphology and so called myoepithelial immunophenotype. Historically, MET have long posed diagnostic and prognostic challenges. Grading and risk stratification have relied largely on the presence of cytologic atypia. Recent molecular and epigenetic studies have fundamentally revised this concept, demonstrating that MET represent a biologically heterogeneous family rather than a single disease entity. Soft tissue (mostly deep-seated) and osseous MET frequently harbor recurrent gene fusions, most commonly involving FET family genes (EWSR1 or less often FUS) with partners such as POU5F1, PBX1, PBX3, KLF15, KLF17, and ZNF444, and more rarely non-FET fusions including SS18::POU5F1. These fusion types correlate with reproducible clinicopathologic patterns and, in emerging outcome datasets, with subtype-specific differences in behavior. In contrast, superficially located adnexal tumors with ductal differentiation - representing true cutaneous mixed tumors/myoepitheliomas - typically lack EWSR1/FUS rearrangements and instead show PLAG1 rearrangements, supporting a bona fide myoepithelial origin and close relationship to PLAG1-driven salivary gland counterparts. Additional complexity arises from SMARCB1-deficient, fusion-negative tumors and a small subset lacking identifiable recurrent drivers, as well as substantial overlap in morphology and immunophenotype with multiple MET mimics, contributing to diagnostic misclassification when using morphology and immunohistochemistry alone. To address these issues, we synthesize clinicopathologic, molecular, methylomic and pooled outcome data across major MET subgroups from recent multi-institutional cohorts, highlighting pronounced epigenetic and clinical heterogeneity and providing practical diagnostic guidance for surgical pathologists. We propose a molecularly informed classification framework that improves diagnostic precision, clarifies terminology - particularly distinguishing PLAG1-rearranged cutaneous salivary-gland analogs from fusion-associated soft tissue/bone sarcomas with myoepithelial-like phenotype - and lays a foundation for refined prognostic stratification and future therapeutic studies. - Source: PubMed
Publication date: 2026/05/06
Michal MichaelDermawan Josephine K