ArticleDiagnostic pathology2018
Identification of a novel MTAP-RAF1 fusion in a soft tissue sarcoma.
Article in Diagnostic pathology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- 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
- The role of CRAF in cancer progression: from molecular mechanisms to precision therapies.Nature reviews. Cancer · 2024Review
- Targeting CRAF kinase in anti-cancer therapy: progress and opportunities.Molecular cancer · 2023Review
- Two cases of spindle cell tumors with S100 and CD34 co-expression showing novel RAF1 fusions.Diagnostic pathology · 2022Article
- Case report:Frontiers in oncology · 2022Article
- Sustained Response to the Mitogen-Activated Extracellular Kinase Inhibitor Trametinib in a Spindle Cell Sarcoma Harboring a QKI-RAF1 Gene Fusion.JCO precision oncology · 2022Article
- RAF1-rearranged spindle cell tumour: report of two additional cases with identification of a novel FMR1-RAF1 fusion.Virchows Archiv : an international journal of pathology · 2021Article
- Novel BRAF gene fusions and activating point mutations in spindle cell sarcomas with histologic overlap with infantile fibrosarcoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Comprehensive profiling of immune-related genes in soft tissue sarcoma patients.Journal of translational medicine · 2020Article
- Non-coding RNAs in cancers with chromosomal rearrangements: the signatures, causes, functions and implications.Journal of molecular cell biology · 2019Review
- Soft Tissue Tumor withCase reports in oncologyArticle
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRAF family activating fusions have been described as a potentially targetable molecular finding in a subset of soft tissue sarcomas. To further expand upon the landscape of this genetic feature, we describe a novel MTAP-RAF1 activating fusion identified in a S100 positive soft tissue sarcoma. CASE PRESENTATION: A 51 year old man underwent excision of a soft tissue mass in his foot. Pathology revealed a spindle cell neoplasm with S100 positivity, ultimately classified as a soft tissue sarcoma, not otherwise specified. Comprehensive molecular profiling was performed to help establish the diagnosis and revealed a novel MTAP-RAF1 fusion that includes the tyrosine kinase domain of RAF1.
conclusionsOur report adds to the spectrum of fusion-driven RAF activation observed in soft tissue sarcomas and lends additional evidence that RAF activation plays an important role in some soft tissue sarcomas. Identification of novel fusions involving the MAPK/ERK pathway in sarcomas may provide new avenues for precision medicine strategies involving targeted kinase inhibitors.
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