ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2021
Hybrid schwannoma-perineurioma frequently harbors VGLL3 rearrangement.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Hybrid tumors with perineurioma components: a systematic review of the literature and illustrative case.Acta neurochirurgica · 2023Pooled it
- Contemporary Profile of Hybrid Nerve Sheath Tumors: Clinical, Anatomical, and Imaging Characteristics.Cancers · 2026Article
- Beyond the Globe: Molecular Diagnostics of Optic Nerve, Orbital, and Adnexal Neoplasms.Translational vision science & technology · 2026Review
- Cutaneous soft tissue tumors in the 5th edition of the World Health Organization classification of skin tumors: key updates and new entities.Journal of pathology and translational medicine · 2026Article
- EP300::VGLL3 fused rhabdomyoblastic tumor revisited: Is the label "rhabdomyosarcoma" justified?Virchows Archiv : an international journal of pathology · 2026Article
- Central nervous system schwannoma, VGLL-fused (EWSR1::VGLL1 fusion) with neuroblastoma-like cell dense areas in the frontal lobe of a young man with schwannomatosis due to a germline LZTR1 mutation.Free neuropathology · 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
- Hybrid granular cell tumor/perineurioma: a report of two rare cases with PIK3CA mutations.Virchows Archiv : an international journal of pathology · 2025Article
- VGLL fusions define a new class of intraparenchymal central nervous system schwannoma.Neuro-oncology · 2025Article
- A Case of Hybrid Cellular Neurothekeoma and Perineurioma With a Folliculin Gene Mutation.Journal of cutaneous pathology · 2025Article
- Hybrid Benign Peripheral Nerve Sheath Tumors: A Comprehensive Literature Review with Emphasis on Their Clinical, Morphological and Genetic Features.Diagnostics (Basel, Switzerland) · 2025Review
- Frontal lobe intra-axial schwannoma harboring a CHD7::VGLL3 fusion and heterozygous TSC2 p.F1510del mutation in a young child.Molecular biology reports · 2025Article
- [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
- Hybrid peripheral nerve sheath tumours: MRI features with pathological correlation in 24 cases.The British journal of radiology · 2024Article
- Recent Advances in the Diagnosis, Pathogenesis, and Management of Myxoinflammatory Fibroblastic Sarcoma.International journal of molecular sciences · 2024Review
- What is new in intraneural perineurioma?Acta neurochirurgica · 2023Review
- Perineurioma of the sciatic nerve with reticular, microcystic, and pseudolipoblastic features: illustrative case.Journal of neurosurgery. Case lessons · 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
- Practical Approach to Histological Diagnosis of Peripheral Nerve Sheath Tumors: An Update.Diagnostics (Basel, Switzerland) · 2022Review
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Authors and funding
9 authors at 4 institutions in 3 countries.
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Abstract
Benign peripheral nerve tumors include schwannoma, neurofibroma, and perineurioma, as well as a recently recognized group of tumors with dual patterns of differentiation. The molecular pathogenesis of these so-called "hybrid" tumors remains poorly understood. Following identification of a novel CHD7-VGLL3 fusion gene in a hybrid schwannoma-perineurioma, we evaluated an expanded cohort of this tumor-type-as well as tumors with VGLL3 rearrangement identified from a curated molecular database-to characterize the prevalence of fusion genes among these tumors. Eighteen tumors met the inclusion criteria for this study. RNA sequencing identified VGLL3 rearrangement in 14 of these cases; the partner genes included CHD7 (ten cases), CHD9 (two cases), and MAMLD1 (two cases). Two cases possessed altogether unrelated fusions, including: DST-BRAF and SQSTM1-CDX1 fusion genes. Finally, two cases lacked identifiable fusion products. These findings highlight the molecular diversity of these neoplasms, with frequent rearrangement of VGLL3. More importantly, despite their dual pattern of differentiation, our results reveal the pathogenesis of hybrid schwannoma-perineurioma is unrelated to conventional schwannoma and perineurioma, thereby implying this tumor represents an altogether pathologically distinct entity.
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