ArticleThe American journal of surgical pathology2016
A Molecular Study of Pediatric Spindle and Sclerosing Rhabdomyosarcoma: Identification of Novel and Recurrent VGLL2-related Fusions in Infantile Cases.
Article in The American journal of surgical pathology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 122 papers, 2 of them syntheses that pooled it.
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Who cites it
122 citing papers in PubMed, 2 syntheses or guidelines pooled it, 273 citations in OpenAlex.
- Epithelioid and spindle rhabdomyosarcoma with TFCP2 rearrangement in abdominal wall: a distinctive entity with poor prognosis.Diagnostic pathology · 2023Pooled it
- Rhabdomyosarcoma of the head and neck in pediatric patients: a systematic review.Medicina oral, patologia oral y cirugia bucal · 2022Pooled it
- Establishment of a ZFP64::NCOA3 fusion-positive spindle cell/sclerosing rhabdomyosarcoma organoid model and evaluation of fusion-gene dependency.Human cell · 2026Article
- Paediatric Therapeutic Development Workshop on rhabdomyosarcoma.British journal of cancer · 2026Review
- MYOD1 mutation drives cancer stem cell pathways and therapy-resistance in spindle cell/sclerosing rhabdomyosarcoma.Nature communications · 2026Article
- Rhabdomyosarcoma Confined to the Bone Marrow: A Case Report and Literature Review.Current oncology (Toronto, Ont.) · 2026Review
- Review
- 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
- A global clinicopathologic and molecular portrait of spindle cell/sclerosing rhabdomyosarcoma with emphasis on retroperitoneal cases.Frontiers in oncology · 2026Article
- Cell-Specific DNA Methylation Markers in Plasma cfDNA Reveal Diagnostic Potential for Head and Neck Cancer.Journal of Cancer · 2026Article
- Perioperative outcomes and prognostic determinants in adult spindle cell/sclerosing rhabdomyosarcoma: implications of treatment intensity, surgical margins, and molecular heterogeneity.Frontiers in oncology · 2026Article
- The PIK3CA/AKT pathway drives therapy resistance in rhabdomyosarcoma.Nature communications · 2025Article
- Clinicopathologic and Molecular Genetic Features of Spindle Cell Rhabdomyosarcoma Harboring ZFP64::NCOA2/3 Fusions: A Series of 14 Cases.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2025Article
- Beyond Hybrid Morphology: A Large Series of Fusion-Driven Benign Peripheral Nerve Sheath Tumors Including 5 Tumors With Novel Fusions.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2025Article
- Spindle Cell Variant of Rhabdomyosarcoma: An Aggressive Clinical Case of the Oral Cavity.South Asian journal of cancer · 2025Article
- Review
- Targeting developmental vulnerabilities in childhood sarcomas.Cancer metastasis reviews · 2025Review
- Gene Fusions as Potential Therapeutic Targets in Soft Tissue Sarcomas.Biomolecules · 2025Review
- Article
62 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
Sclerosing rhabdomyosarcoma (ScRMS) and spindle cell rhabdomyosarcoma (SRMS) have been recently reclassified as a stand-alone pathologic entity, separate from embryonal RMS. Genetically, a subset of the congenital cases display NCOA2 gene rearrangements, whereas tumors occurring in older children or adults harbor MYOD1 gene mutations with or without coexisting PIK3CA mutations. Despite these recent advances, a significant number of tumors lack known genetic alterations. In this study we sought to investigate a large group of pediatric SRMS/ScRMS, spanning a diverse clinical and pathologic spectrum, by using a combined fluorescence in situ hybridization, targeted DNA, and whole-transcriptome sequencing methodology for a more definitive molecular classification. A total of 26 SRMS and ScRMS cases were selected from the 2 participating institutions for the molecular analysis. Ten of the 11 congenital/infantile SRMS showed recurrent fusion genes: with novel VGLL2 rearrangements seen in 7 (63%), including VGLL2-CITED2 fusion in 4 and VGLL2-NCOA2 in 2 cases. Three (27%) cases harbored the previously described NCOA2 gene fusions, including TEAD1-NCOA2 in 2 and SRF-NCOA2 in 1. All fusion-positive congenital/infantile SRMS patients with available long-term follow-up were alive and well, none developing distant metastases. Among the remaining 15 SRMS patients older than 1 year, 10 (67%) showed MYOD1 L122R mutations, most of them following a fatal outcome despite an aggressive multimodality treatment. All 4 cases harboring coexisting MYOD1/PIK3CA mutations shared sclerosing morphology. All 5 fusion/mutation-negative SRMS cases presented as intra-abdominal or paratesticular lesions.
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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.