ArticleThe American journal of surgical pathology2018
Ectomesenchymal Chondromyxoid Tumor: A Neoplasm Characterized by Recurrent RREB1-MKL2 Fusions.
Article in The American journal of surgical pathology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 75 citations in OpenAlex.
- Morphological features and genetic background in ectomesenchymal chondromyxoid tumor: A systematic review.Histology and histopathology · 2025Pooled it
- Systematic Analysis of MRTFB Phosphoproteomic Datasets Reveals Co-Regulated Kinase Networks and Co-Occurring Phosphosites Associated with the Actin Cytoskeleton Pathway.Current issues in molecular biology · 2026Article
- Cutaneous/subcutaneous RREB1::MRTFB fusion-positive extra-glossal mesenchymal neoplasm-two cases expanding the anatomical spectrum of an emerging entity.Virchows Archiv : an international journal of pathology · 2026Article
- An epithelioid hemangioendothelioma with a novel RREB1::TFE3 gene fusion.Virchows Archiv : an international journal of pathology · 2026Article
- EP300::VGLL3 fused rhabdomyoblastic tumor revisited: Is the label "rhabdomyosarcoma" justified?Virchows Archiv : an international journal of pathology · 2026Article
- 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
- Unusual Locations of Extra-Glossal Ectomesenchymal Chondromyxoid Tumors with RREB1-MRTFB Gene Fusions: A Report of Two Cases.Head and neck pathology · 2025Article
- An extralingual Ectomesenchymal chondromyxoid tumor with RREB1::MRTFB fusion: a rare case report of plantar fascia involvement.Diagnostic pathology · 2025Article
- Ectomesenchymal Chondromyxoid Tumor of the Anterior Tongue: A Case Image.Head and neck pathology · 2024Article
- Molecularly defined sinonasal malignancies: an overview with focus on the current WHO classification and recently described provisional entities.Virchows Archiv : an international journal of pathology · 2024Review
- Elucidating the Diagnostic Complexity of Round Cell Sarcoma with EWSR1-CREM Fusion: A Comprehensive Case Study.Medicina (Kaunas, Lithuania) · 2024Article
- Spindle Cell Tumors of the Sinonasal Tract: A Diagnostic Update with Focus on Ancillary Workup.Head and neck pathology · 2024Review
- Molecular pathology in diagnosis and prognostication of head and neck tumors.Virchows Archiv : an international journal of pathology · 2024Review
- Recent Advances in the Diagnosis, Pathogenesis, and Management of Myxoinflammatory Fibroblastic Sarcoma.International journal of molecular sciences · 2024Review
- [Special mesenchymal neoplasms of the head and neck: Update from the 2022 WHO].Pathologie (Heidelberg, Germany) · 2023Review
- De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- RREB1::MRTFB fusion-positive extra-glossal mesenchymal neoplasms: A series of five cases expanding their anatomic distribution and highlighting significant morphological and phenotypic diversity.Genes, chromosomes & cancer · 2023Article
- Recurrent VGLL3 fusions define a distinctive subset of spindle cell rhabdomyosarcoma with an indolent clinical course and striking predilection for the head and neck.Genes, chromosomes & cancer · 2022Article
- Article
- Detection of sarcoma fusions by a next-generation sequencing based-ligation-dependent multiplex RT-PCR assay.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
Corrections and comments
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Authors and funding
19 authors at 14 institutions in 3 countries.
Funding
Abstract
Ectomesenchymal chondromyxoid tumor is a rare and benign neoplasm with a predilection for the anterior dorsal tongue. Despite morphologic heterogeneity, most cases are characterized by a proliferation of bland spindle cells with a distinctive reticular growth pattern and myxoid stroma. The immunophenotype of these neoplasms is likewise variable; most cases express glial fibrillary acid protein and S100 protein, with inconsistent reports of keratin and myoid marker expression. The molecular pathogenesis is poorly understood; however, a subset of cases has been reported to harbor EWSR1 gene rearrangement. Following identification of an RREB1-MKL2 fusion gene by RNA Sequencing in an index patient, a retrospective review of additional cases of ectomesenchymal chondromyxoid tumors was performed to better characterize the clinical, immunohistochemical, and molecular attributes of this neoplasm. A total of 21 cases were included in this series. A marked predisposition for the dorsal tongue was confirmed. Most cases conformed to prior morphologic descriptions; however, hypercellularity, hyalinized stroma, and necrosis were rare attributes not previously emphasized. The neoplastic cells frequently coexpressed glial fibrillary acid protein, S100 protein, keratin, smooth muscle actin, and/or desmin; a single case was found to contain significant myogenin expression. An RREB1-MKL2 fusion product was identified in 19 tumors (90%), a single tumor (5%) had an EWSR1-CREM fusion product, and the remaining case lacked any known fusion gene by RNA Sequencing. The latter 2 cases subtly differed morphologically from many in the cohort. This series illustrates that recurrent RREB1-MKL2 fusions occur in most, perhaps all, cases of ectomesenchymal chondromyxoid tumor.
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