ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2020
BRAF V600E mutation is a potential therapeutic target for a small subset of synovial sarcoma.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2020. 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.
- Synovial Sarcoma: Molecular Biology, Pathology, and Therapeutic Strategies.International journal of molecular sciences · 2026Review
- BRAFOncology research · 2026Review
- Molecular and epigenetic oncogenesis in synovial sarcoma: implications for cancer biology, diagnosis and treatment.Oncogene · 2025Review
- Spectrum and Clinical Impact of Secondary Genetic Alterations in Translocation-Associated Sarcomas.JCO precision oncology · 2025Article
- Novel Therapeutics in Soft Tissue Sarcoma.Cancers · 2024Review
- Rapid but nondurable response of aOncotarget · 2024Article
- The Combined Immunohistochemical Expression of GLI1 and BCOR in Synovial Sarcomas for the Identification of Three Risk Groups and Their Prognostic Outcomes: A Study of 52 Patients.International journal of molecular sciences · 2024Article
- Undifferentiated and Dedifferentiated Metastatic Melanomas Masquerading as Soft Tissue Sarcomas: Mutational Signature Analysis and Immunotherapy Response.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2023Article
- Intrathoracic synovial sarcoma with BRAF V600E mutation.Oncotarget · 2023Article
- Upregulation of ERK-EGR1-heparanase axis by HDAC inhibitors provides targets for rational therapeutic intervention in synovial sarcoma.Journal of experimental & clinical cancer research : CR · 2021Article
- Correlating SS18-SSX immunohistochemistry (IHC) with SS18 fluorescent in situ hybridization (FISH) in synovial sarcomas: a study of 36 cases.Virchows Archiv : an international journal of pathology · 2021Article
- Translating Molecular Profiling of Soft Tissue Sarcomas into Daily Clinical Practice.Diagnostics (Basel, Switzerland) · 2021Review
- Clinical Utility of Circulating Tumor DNA in Advanced Rare Cancers.Frontiers in oncology · 2021Article
- Sarcoma treatment in the era of molecular medicine.EMBO molecular medicine · 2020Review
- A case report of metastatic giant sarcomatoid melanoma with BRAF V600E mutation: a complete response to targeted therapy.Oncotarget · 2020Article
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Authors and funding
12 authors.
Funding
Abstract
Synovial sarcoma (SS) is an aggressive tumor that most often affects the deep soft tissues in young adults. Intrathoracic SS is rare and is associated with poor outcome, highlighting the urgent need for a novel therapeutic strategy. In the process of clinical sequencing, we identified two patients with intrathoracic SS harboring the BRAF V600E mutation. The patients were women aged 32 and 23 years, and both presented with SS18-SSX2-positive monophasic SS in the thoracic cavity. BRAF V600E mutations were detected by next generation sequencing, and validated immunohistochemically by diffuse intense positivity to BRAF V600E mutation-specific antibodies. The phosphorylated ERK (pERK) immunohistochemistry result was also positive. One patient received a combination therapy of dabrafenib and trametinib, which led to tumor shrinkage. However, the tumor growth progressed 7.5 months later with an additional NRAS Q61K mutation. Immunohistochemical screening of 67 archival SS tumor samples failed to identify additional samples with BRAF V600E mutation. However, 32% of BRAF V600E-negative cases was positive for pERK, and one of the six tumors showing the highest pERK expression harbored an FGFR2-activating mutation. This is the first report of targetable BRAF mutation in a small subset of SS. Our study suggests involvement of the mitogen-activated protein kinase pathway and the potential clinical implication of BRAF mutation screening in SS.
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