ArticleGenes, chromosomes & cancer2021
Pediatric fibromyxoid soft tissue tumor with PLAG1 fusion: A novel entity?
Article in Genes, chromosomes & cancer, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 28 citations in OpenAlex.
- Malignant MITF-Rearranged PEComa With Novel EEF1A1::MITF Fusion.Genes, chromosomes & cancer · 2026Article
- RNF19A::PLAG1-rearranged uterine mesenchymal tumor with myofibroblastic features and focal adipocytic differentiation: broadening the histologic and molecular genetic spectrum of PLAG1-rearranged uterine mesenchymal neoplasms.Virchows Archiv : an international journal of pathology · 2026Article
- PLAG1-Rearranged Fibromyxoid and Lipomatous Neoplasms in Children and Adults: Separate Entities or a Morphological Spectrum?Genes, chromosomes & cancer · 2025Article
- Molecular analysis of apocrine mixed tumors and cutaneous myoepitheliomas: a comparative study confirming a continuous spectrum of one entity with near-ubiquitous PLAG1 and rare mutually exclusive HMGA2 gene rearrangements.Virchows Archiv : an international journal of pathology · 2025Article
- What is new in fibroblastic/myofibroblastic tumors in children.Virchows Archiv : an international journal of pathology · 2025Review
- Fibromyxoid aSoft Tissue Tumor With PLAG1 Fusion-The First Case in an Adult Patient.Genes, chromosomes & cancer · 2024Article
- Pediatric fibromyxoid brachial plexus tumor with YWHAZ::PLAG1 gene fusion: a case report.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Article
- Lipoblastoma in one adult and 35 pediatric patients: Retrospective analysis of 36 cases.Experimental and therapeutic medicine · 2023Article
- Development and validation of an RNA sequencing panel for gene fusions in soft tissue sarcoma.Cancer science · 2022Article
- Pleomorphic adenoma gene 1 (PLAG1) promotes proliferation and inhibits apoptosis of bovine primary myoblasts through the PI3K-Akt signaling pathway.Journal of animal science · 2022Article
- Expanding the spectrum of PLAG1-rearranged lipoblastomas arising in patients over 45, with identification of novel fusion partners.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- A unique epithelioid vascular neoplasm of bone characterized by EWSR1/FUS-NFATC1/2 fusions.Genes, chromosomes & cancer · 2021Article
- Recurrent 8q11-13 Aberrations Leading toCancer genomics & proteomicsArticle
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9 authors at 5 institutions in 2 countries.
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Abstract
The classification of undifferentiated soft tissue tumors continues to evolve with the expanded application of molecular analysis in clinical practice. We report three cases of a unique soft tissue tumor in young children (5 months to 2 years old) displaying a purely fibromyxoid histology, with positive staining for desmin and CD34. In two cases, RNA sequencing detected a YWHAZ-PLAG1 gene fusion, while in the third case, a previously unreported EEF1A1-PLAG1 fusion was identified. PLAG1 fusions have been reported in several pathologic entities including pleomorphic adenoma, myoepithelial tumors of skin and soft tissue, and lipoblastoma, the latter occurring preferentially in young children. In these tumors, expression of a full length PLAG1 protein comes under the control of the constitutively active promoter of the partner gene in the fusion, and the current cases conform to that model. Overexpression of PLAG1 was confirmed by diffusely positive immunostaining for PLAG1 in all three cases. Our findings raise the possibility of a novel fibromyxoid neoplasm in childhood associated with these rare PLAG1 fusion variants. The only other report of a PLAG1-YWHAZ fusion occurred in a pediatric tumor diagnosed as a "fibroblastic lipoblastoma." This finding raises the possibility of a relationship with our three cases, even though our cases lacked any fat component. Further studies with regard to a shared pathogenesis are required.
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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 Socratic graph.