ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2021
Novel BRAF gene fusions and activating point mutations in spindle cell sarcomas with histologic overlap with infantile fibrosarcoma.
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 21 papers.
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Who cites it
21 citing papers in PubMed, 53 citations in OpenAlex.
- High clinical utility of comprehensive multi-omic molecular profiling of rare and hard-to-diagnose pediatric tumors.Research square · 2026Article
- High clinical utility of comprehensive multi-omic molecular profiling of rare and hard-to-diagnose pediatric tumors.medRxiv : the preprint server for health sciences · 2026Article
- A subset of high-grade sarcomas with myogenic differentiation are associated with recurrent FGFR fusions.The journal of pathology. Clinical research · 2026Article
- Protein kinase-related tumors in the pediatric population : Updated review on an emerging group with emphasis on the more rarely involved kinases.Pathologie (Heidelberg, Germany) · 2026Review
- Rare but not forgotten: Therapeutic advancements for rare childhood cancers.Molecular therapy. Oncology · 2025Review
- BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.BMC cancer · 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
- NovelInternational journal of molecular sciences · 2025Review
- What is new in fibroblastic/myofibroblastic tumors in children.Virchows Archiv : an international journal of pathology · 2025Review
- A case report of infantile fibrosarcoma with BRAF gene mutation with incomplete intestinal obstruction.Frontiers in oncology · 2025Article
- Transdifferentiation of Multiple Myeloma into Histiocytic Sarcoma: Case Report of a Highly Unusual Phenomenon.Pathobiology : journal of immunopathology, molecular and cellular biology · 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
- Kinase fusion positive intra-osseous spindle cell tumors: A series of eight cases with review of the literature.Genes, chromosomes & cancer · 2024Review
- Article
- Case report: Primary sarcoma of the mandible with a novelFrontiers in oncology · 2024Article
- Frequent CD30 Expression in an Emerging Group of Mesenchymal Tumors With NTRK, BRAF, RAF1, or RET Fusions.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2023Article
- ALK-rearranged Mesenchymal Neoplasms: A Report of 9 cases Further Expanding the Clinicopathologic Spectrum of Emerging Kinase Fusion Positive Group of Tumors.Genes, chromosomes & cancer · 2023Article
- Spindle cell sarcoma withOncology letters · 2022Article
- Tumor-Type Agnostic, Targeted Therapies: BRAF Inhibitors Join the Group.Acta medica academica · 2022Review
- Article
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15 authors at 9 institutions in 3 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Infantile fibrosarcoma (IFS)/cellular congenital mesoblastic nephroma (cCMN) commonly harbors the classic ETV6-NTRK3 translocation. However, there are recent reports of mesenchymal tumors with IFS-like morphology harboring fusions of other receptor tyrosine kinases or downstream effectors, including NTRK1/2/3, MET, RET, and RAF1 fusions as well as one prior series with BRAF fusions. Discovery of these additional molecular drivers contributes to a more integrated diagnostic approach and presents important targets for therapy. Here we report the clinicopathologic and molecular features of 14 BRAF-altered tumors, of which 5 had BRAF point mutations and 10 harbored one or more BRAF fusions. Of the BRAF fusion-positive tumors, one harbored two BRAF fusions (FOXN3-BRAF, TRIP11-BRAF) and another harbored three unique alternative splice variants of EPB41L2-BRAF. Tumors occurred in ten males and four females, aged from birth to 32 years (median 6 months). Twelve were soft tissue based; two were visceral including one located in the kidney (cCMN). All neoplasms demonstrated ovoid to short spindle cells most frequently arranged haphazardly or in intersecting fascicles, often with collagenized stroma and a chronic inflammatory infiltrate. No specific immunophenotype was observed; expression of CD34, S100, and SMA was variable. To date, this is the largest cohort of BRAF-altered spindle cell neoplasms with IFS-like morphology, including not only seven novel BRAF fusion partners but also the first description of oncogenic BRAF point mutations in these tumors.
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