ArticleThe American journal of surgical pathology2019
Expanding the Spectrum of Intraosseous Rhabdomyosarcoma: Correlation Between 2 Distinct Gene Fusions and Phenotype.
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 48 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 130 citations in OpenAlex.
- Epithelioid and spindle rhabdomyosarcoma with TFCP2 rearrangement in abdominal wall: a distinctive entity with poor prognosis.Diagnostic pathology · 2023Pooled it
- MEIS1::NCOA2 Fusion Sarcoma of the Bartholin Gland: A Case Report and Review of the Literature.Diagnostics (Basel, Switzerland) · 2026Article
- Epithelioid and spindle cell rhabdomyosarcoma of the rib with FUS-TFCP2 fusion: A case report and literature review.Oncology letters · 2026Article
- EP300::VGLL3 fused rhabdomyoblastic tumor revisited: Is the label "rhabdomyosarcoma" justified?Virchows Archiv : an international journal of pathology · 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
- Unlikely Twist: RMS Emerging from Maxillary Alveolar Fibroma in a Young Adult- A Case Report.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2025Article
- MEIS1::NCOA1 Primitive Spindle Cell Sarcoma of the Kidney : Report of 7 Cases of a Distinctive Clinicopathologic Entity.The American journal of surgical pathology · 2025Article
- 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
- A locally aggressive pelvic MEIS1::NCOA1 fusion sarcoma in a young adult female: a case report and review of the literature.Diagnostic pathology · 2025Review
- Rhabdomyosarcoma with TFCP2 rearrangement in a young adult: a rare case with unique clinical and pathological features.Proceedings (Baylor University. Medical Center) · 2025Article
- Rhabdomyosarcoma With EWSR1::NF2 Gene Fusion: A Case Report Potentially Expanding Its Genetic Spectrum.Genes, chromosomes & cancer · 2025Article
- A potential conundrum in dermatopathology: molecularly confirmed superficial ossifying fibromyxoid tumors with unusual histomorphologic findings and a novel fusion.Virchows Archiv : an international journal of pathology · 2024Article
- Sarcomas with EWSR1::Non-ETS Fusion (EWSR1::NFATC2 and EWSR1::PATZ1).Surgical pathology clinics · 2024Review
- Pediatric spindle cell/sclerosing rhabdomyosarcoma withTranslational pediatrics · 2024Article
- Multi-omic and functional analysis for classification and treatment of sarcomas with FUS-TFCP2 or EWSR1-TFCP2 fusions.Nature communications · 2024Article
- Complementary value of molecular analysis to expert review in refining classification of uncommon soft tissue tumors.Genes, chromosomes & cancer · 2024Article
- Spindle Cell Rhabdomyosarcoma of the Inguinal Region Mimicking a Complicated Hernia in the Adult-An Unexpected Finding.Medicina (Kaunas, Lithuania) · 2023Article
- [Special mesenchymal neoplasms of the head and neck: Update from the 2022 WHO].Pathologie (Heidelberg, Germany) · 2023Review
- Rhabdomyosarcoma with TFCP2 Rearrangement or Typical Co-expression of AE1/AE3 and ALK: Report of Three New Cases in the Head and Neck Region and Literature Review.Head and neck pathology · 2023Review
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 4 countries.
Funding
Abstract
Primary intraosseous rhabdomyosarcomas (RMSs) are extremely rare. Recently 2 studies reported 4 cases of primary intraosseous RMS with EWSR1/FUS-TFCP2 gene fusions, associated with somewhat conflicting histologic features, ranging from spindle to epithelioid. In this study we sought to further investigate the pathologic and molecular abnormalities of a larger group of intraosseous RMSs by a combined approach using targeted RNA sequencing analysis and fluorescence in situ hybridization (FISH). We identified 7 cases, 3 males and 4 females, all in young adults, age range 20 to 39 years (median, 27 y). Three cases involved the pelvis, 2 involved the femur and 1 each involved the maxilla and the skull. Molecular studies identified recurrent gene fusions in all 7 cases tested, including: a novel MEIS1-NCOA2 fusion in 2 cases, EWSR1-TFCP2 in 3 cases, and FUS-TFCP2 gene fusions in 1 case. One case showed a FUS gene rearrangement, without a TFCP2 gene abnormality by FISH. The MEIS1-NCOA2-positive cases were characterized by a more primitive and fascicular spindle cell appearance, while the EWSR1/FUS rearranged tumors had a hybrid spindle and epithelioid phenotype, with more abundant eosinophilic cytoplasm and mild nuclear pleomorphism. Immunohistochemically, all tumors were positive for desmin and myogenin (focal). In addition, 4 tumors with TFCP2-associated gene fusions also coexpressed ALK and cytokeratin. In conclusion, our results suggest a high incidence of gene fusions in primary RMSs of bone, with 2 molecular subsets emerging, defined by either MEIS1-NCOA2 or EWSR1/FUS-TFCP2 fusions, showing distinct morphology and immunophenotype. Additional studies with larger numbers of cases and longer follow-up data are required to definitively evaluate the biological behavior of these tumors and to establish their relationship to other spindle cell RMS genetic groups.
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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.