ArticleHistopathology2023
NTRK-rearranged spindle cell neoplasms are ubiquitous tumours of myofibroblastic lineage with a distinct methylation class.
Article in Histopathology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 37 citations in OpenAlex.
- A Case of Primary Intramedullary Infantile Fibrosarcoma With an RBPMS::NTRK3 Fusion and Response to Larotrectinib.Neuropathology and applied neurobiology · 2026Article
- The Vaccine Candidates Against Major Fish Pathogens (Life (Basel, Switzerland) · 2026Article
- Not all NTRK fusions in mesenchymal neoplasia are driver events: implications on classification and targeted therapy.The journal of pathology. Clinical research · 2026Article
- Gene fusion-driven cutaneous mesenchymal neoplasms: An updated review emphasizing the emerging entities.Virchows Archiv : an international journal of pathology · 2026Review
- A Rare TPM3-NTRK1 fusion in a fetal pelvic mass.Radiology case reports · 2025Article
- Mesenchymal Nonmeningothelial Tumors of the CNS: Evolving Molecular Landscape and Implications for Neuroradiologists.AJNR. American journal of neuroradiology · 2025Review
- Primary pancreas NTRK-rearranged neoplasm harboring an EVT6::NTRK3 fusion with a sclerosing epithelioid fibrosarcoma morphology: a case report and comprehensive review of the literature.Frontiers in oncology · 2025Article
- What is new in fibroblastic/myofibroblastic tumors in children.Virchows Archiv : an international journal of pathology · 2025Review
- LMNA-NTRK1-rearranged spindle cell neoplasm with multiple relapses: a case report and literature review.Frontiers in medicine · 2025Article
- Update on cutaneous mesenchymal tumors in the 5th edition of WHO classification of skin tumors with an emphasis on new fusion-associated neoplasms.Virchows Archiv : an international journal of pathology · 2024Review
- Neonatal spindle-cell CD34-positive plaque-like tumour: a new entity characterised by NTRK gene fusion.Virchows Archiv : an international journal of pathology · 2024Article
- Malignant peripheral nerve sheath tumor (MPNST) and MPNST-like entities are defined by a specific DNA methylation profile in pediatric and juvenile population.Clinical epigenetics · 2024Article
- Case report: Adult NTRK-rearranged spindle cell neoplasms with TPM3-NTRK1 fusion in the pelvic.Frontiers in oncology · 2024Article
- The Recent Advances in Molecular Diagnosis of Soft Tissue Tumors.International journal of molecular sciences · 2023Review
- Mesenchymal non-meningothelial tumors of the central nervous system: a literature review and diagnostic update of novelties and emerging entities.Acta neuropathologica communications · 2023Review
Corrections and comments
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Authors and funding
20 authors at 9 institutions in 2 countries.
Funding
Abstract
aimsNTRK gene fusions have been described in a wide variety of central nervous system (CNS) and soft tissue tumours, including the provisional tumour type 'spindle cell neoplasm, NTRK-rearranged' (SCN-NTRK), added to the 2020 World Health Organisation Classification of Soft Tissue Tumours. Because of histopathological and molecular overlaps with other soft tissue entities, controversy remains concerning the lineage and terminology of SCN-NTRK. METHODS AND
resultsThis study included 16 mesenchymal tumours displaying kinase gene fusions (NTRK fusions and one MET fusion) initially diagnosed as infantile fibrosarcomas (IFS), SCN-NTRK and adult-type fibrosarcomas from the soft tissue, viscera and CNS. We used immunohistochemistry, DNA methylation profiling, whole RNA-sequencing and ultrastructural analysis to characterise them. Unsupervised t-distributed stochastic neighbour embedding analysis showed that 11 cases (two CNS tumours and nine extra-CNS) formed a unique and new methylation cluster, while all tumours but one, initially diagnosed as IFS, clustered in a distinct methylation class. All the tumours except one formed a single cluster within the hierarchical clustering of whole RNA-sequencing data. Tumours from the novel methylation class co-expressed CD34 and S100, had variable histopathological grades and frequently displayed a CDKN2A deletion. Ultrastructural analyses evidenced a myofibroblastic differentiation.
conclusionsOur findings confirm that SCN-NTRK share similar features in adults and children and in all locations combine an infiltrative pattern, distinct epigenetic and transcriptomic profiles, and ultrastructural evidence of a myofibroblastic lineage. Further studies may support the use of new terminology to better describe their myofibroblastic nature.
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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 OpenQuestion graph.