SynthesisGenes, chromosomes & cancer2018
A novel group of spindle cell tumors defined by S100 and CD34 co-expression shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes.
Synthesis in Genes, chromosomes & cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
75 citing papers in PubMed, 1 synthesis or guideline pooled it, 191 citations in OpenAlex.
- Pooled it
- Spindle Cell Tumors with aInternational journal of molecular sciences · 2026Article
- Article
- Primary intracranial RAF1-rearranged spindle cell neoplasm: a case report of a rare entity.Acta neurologica Belgica · 2026Article
- Gene fusion-driven cutaneous mesenchymal neoplasms: An updated review emphasizing the emerging entities.Virchows Archiv : an international journal of pathology · 2026Review
- Late Recurrence of Spindle Cell Sarcoma in Association withInternational journal of surgical pathology · 2025Article
- ALK rearranged malignant mesenchymal neoplasms of thorax: therapeutically targetable 'ALKomas' beyond the spectrum of non-small cell lung carcinomas and thoracic inflammatory myofibroblastic tumors.Virchows Archiv : an international journal of pathology · 2025Article
- Low-grade NTRK-rearranged spindle cell neoplasm presenting as a colonic polyp and managed by polypectomy: a rare case report and literature review.Diagnostic pathology · 2025Review
- The first case ofInternational cancer conference journal · 2025Article
- A practical approach to better identify NTRK 1-3 fusion-positive mesenchymal neoplasms by pan-Trk immunohistochemistry.Virchows Archiv : an international journal of pathology · 2025Article
- S100 and CD34 positive spindle cell tumors of the uterine cervix with EGFR mutation: a hitherto unrecognized neoplasm phenotypically and epigenetically overlapping with "NTRK-rearranged spindle cell neoplasms" of the uterus.Virchows Archiv : an international journal of pathology · 2025Article
- Novel dual gene fusions identified in a late pulmonary metastasis of an infantile fibrosarcoma-like tumor.Virchows Archiv : an international journal of pathology · 2025Article
- Current management of neurotrophic receptor tyrosine kinase fusion-positive sarcoma: an updated review.Japanese journal of clinical oncology · 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
- Excellent response to trametinib and low dose chemotherapy in a patient with rare RAF1 mutated sarcoma in a tertiary care center in India.Ecancermedicalscience · 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
- Superficial Anaplastic Lymphoma Kinase-Rearranged Myxoid Spindle Cell Neoplasm in the Buttock: A Case Report.Journal of personalized medicine · 2024Article
- Spindle cell neoplasms with novel LTK fusion - Expanding the spectrum of kinase fusion-positive soft tissue tumors.Genes, chromosomes & cancer · 2024Article
- Spindle Cell Tumors of the Sinonasal Tract: A Diagnostic Update with Focus on Ancillary Workup.Head and neck pathology · 2024Review
- The role of CRAF in cancer progression: from molecular mechanisms to precision therapies.Nature reviews. Cancer · 2024Review
15 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
Abstract
Tumors characterized by co-expression of S100 and CD34, in the absence of SOX10, remain difficult to classify. Triggered by a few index cases with monomorphic cytomorphology and distinctive stromal and perivascular hyalinization, immunopositivity for S100 and CD34, and RAF1 and NTRK1 fusions, the authors undertook a systematic review of tumors with similar features. Most of the cases selected were previously diagnosed as low-grade malignant peripheral nerve sheath tumors, while others were deemed unclassified. The tumors were studied with targeted RNA sequencing and/or FISH. A total of 25 cases (15 adults and 10 children) with kinase fusions were identified, including 8 cases involving RAF1, 2 BRAF, 14 NTRK1, and 1 NTRK2 gene rearrangements. Most tumors showed a monomorphic spindle cell proliferation with stromal and perivascular keloidal collagen, in a patternless architecture, with only occasional scattered pleomorphic or multinucleated cells. Most cases showed low cellularity, a low mitotic count, and absence of necrosis. Although a subset showed overlap with lipofibromatosis-like neural tumors, the study group showed distinctive hyalinization and overt malignant features, such as highly cellular fascicular growth and primitive appearance. All tumors showed co-expression of S100 and CD34, ranging from focal to diffuse. SOX10 was negative in all cases. NTRK1 immunohistochemistry showed high levels of expression in all tumors with NTRK1 gene rearrangements. H3K27me3 expression performed in a subset of cases was retained. These findings together with the recurrent gene fusions in RAF1, BRAF, and NTRK1/2 kinases suggest a distinct molecular tumor subtype with consistent S100 and CD34 immunoreactivity.
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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.