ArticleHistopathology2021
Head and neck rhabdomyosarcoma with TFCP2 fusions and ALK overexpression: a clinicopathological and molecular analysis of 11 cases.
Article in Histopathology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.
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Who cites it
38 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Epithelioid and spindle rhabdomyosarcoma with TFCP2 rearrangement in abdominal wall: a distinctive entity with poor prognosis.Diagnostic pathology · 2023Pooled it
- Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Odontogenic and Maxillofacial Bone Tumours.Head and neck pathology · 2022Pooled it
- FUS/EWSR1::TFCP2-rearranged bone and soft tissue tumors: evidence of gene promiscuity.Virchows Archiv : an international journal of pathology · 2026Article
- Epithelioid Sarcoma of the Oral Cavity: A Multi-institutional Clinicopathologic and Immunophenotypic Characterization of Five Cases and Comprehensive Literature Review.Head and neck pathology · 2026Review
- Epithelioid and spindle cell rhabdomyosarcoma of the rib with FUS-TFCP2 fusion: A case report and literature review.Oncology letters · 2026Article
- An ultra-late maxillofacial cavity following multimodal treatment for adult head and neck rhabdomyosarcoma: a case report with a 16-year follow-up.Frontiers in oncology · 2026Article
- Integration of Whole-Genome Sequencing Analysis with Unique Patient-Derived Models Reveals Clinically Relevant Drug Targets in TFCP2 Fusion-Defined Rhabdomyosarcoma.Molecular cancer therapeutics · 2025Article
- Article
- Oral Soft Tissue and Jawbone Sarcomas: A Retrospective Clinicopathologic Analysis of 128 Cases from Two Institutions and Comprehensive Literature Review.Head and neck pathology · 2025Review
- Primary cutaneous rhabdomyosarcoma with EWSR1/FUS::TFCP2 fusion: four new cases with distinctive morphology, immunophenotypic, and genetic profile.Virchows Archiv : an international journal of pathology · 2025Article
- TFCP2 Fusion-Positive Rhabdomyosarcomas: A Report of 10 Cases and a Review of the Literature.Cancers · 2025Article
- Rhabdomyosarcoma With EWSR1::NF2 Gene Fusion: A Case Report Potentially Expanding Its Genetic Spectrum.Genes, chromosomes & cancer · 2025Article
- Rhabdomyosarcoma in children and young adults.Virchows Archiv : an international journal of pathology · 2025Review
- [Molecular testing in mesenchymal neoplasms: What, when, and how to test? : A review with a special focus on the value of next-generation immunochemistry as a substitute for molecular testing].Pathologie (Heidelberg, Germany) · 2024Review
- TFCP2 as a therapeutic nexus: unveiling molecular signatures in cancer.Cancer metastasis reviews · 2024Review
- Rhabdomyosarcoma of the skull with EWSR1 fusion and ALK and cytokeratin expression: a case report.Journal of pathology and translational medicine · 2024Article
- Recurrent and novel fusions detected by targeted RNA sequencing as part of the diagnostic workflow of soft tissue and bone tumours.The journal of pathology. Clinical research · 2024Article
- Sarcomas with EWSR1::Non-ETS Fusion (EWSR1::NFATC2 and EWSR1::PATZ1).Surgical pathology clinics · 2024Review
- Spindle Cell Tumors of the Sinonasal Tract: A Diagnostic Update with Focus on Ancillary Workup.Head and neck pathology · 2024Review
- Pediatric spindle cell/sclerosing rhabdomyosarcoma withTranslational pediatrics · 2024Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
aimsPrimary intraosseous rhabdomyosarcoma (RMS) is a rare entity defined by EWSR1/FUS-TFCP2 or, less commonly, MEIS1-NCOA2 fusions. The lesions often show a hybrid spindle and epithelioid phenotype, frequently coexpress myogenic markers, ALK, and cytokeratin, and show a striking propensity for the pelvic and craniofacial bones. The aim of this study was to investigate the clinicopathological and molecular features of 11 head and neck RMSs (HNRMSs) characterised by the genetic alterations described in intraosseous RMS. METHODS AND
resultsThe molecular abnormalities were analysed with fluorescence in-situ hybridisation and/or targeted RNA/DNA sequencing. Seven cases had FUS-TFCP2 fusions, four had EWSR1-TFCP2 fusions, and none had MEIS1-NCOA2 fusions. All except one case were intraosseous, affecting the mandible (n = 4), maxilla (n = 3), and skull (n = 3). One case occurred in the superficial soft tissue of the neck. The median age was 29 years (range, 16-74 years), with an equal sex distribution. All tumours showed mixed epithelioid and spindle morphology. Immunohistochemical coexpression of desmin, myogenin, MyoD1, ALK, and cytokeratin was seen in most cases. An intragenic ALK deletion was seen in 43% of cases. Regional and distant spread were seen in three and four patients, respectively. Two patients died of their disease.
conclusionsWe herein present the largest series of HNRMSs with TFCP2 fusions to date. The findings show a strong predilection for the skeleton in young adults, although we also report an extraosseous case. The tumours are characterised by a distinctive spindle and epithelioid phenotype and a peculiar immunoprofile, with coexpression of myogenic markers, epithelial markers, and ALK. They are associated with a poor prognosis, including regional or distant spread and disease-related death.
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