ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2019
Synovial chondromatosis and soft tissue chondroma: extraosseous cartilaginous tumor defined by FN1 gene rearrangement.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 101 citations in OpenAlex.
- Chondroid Soft Tissue Tumors With FOS::PABPN1 Fusion: A New Entity? About Two Cases.Genes, chromosomes & cancer · 2026Article
- Recurrent knee pain and effusion in a child: synovial chondromatosis.BMJ case reports · 2026Article
- Synovial Chondromatosis Harboring a Novel FOS::PAPPA Fusion: Expanding the Phenotypic Spectrum of FOS-Rearranged Neoplasms.Pathology international · 2026Article
- A subset of high-grade sarcomas with myogenic differentiation are associated with recurrent FGFR fusions.The journal of pathology. Clinical research · 2026Article
- Standardized Image-Based Arthroscopic Technique for Hip Synovial Chondromatosis: Long-Term Patient Outcomes.Orthopaedic surgery · 2026Article
- Synovial Chondromatosis of the Elbow: A Case Report and Discussion of Feared Complications.Cureus · 2026Article
- Calcified Chondroid Mesenchymal Neoplasm of the Temporomandibular Joint: A Rare and Recently Described Benign Tumor.Case reports in otolaryngology · 2026Article
- Synovial chondromatosis: Novel advances in understanding the pathogenesis and in diagnostic strategies (Review).Molecular medicine reports · 2026Review
- AccurateInternational journal of molecular sciences · 2025Article
- Article
- Chronic hearing loss turns out being a calcified chondroid mesenchymal neoplasm with FN1::FGFR2 fusion.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2025Article
- Pathology of intra-articular tumours and tumour-like lesions: pearls, pitfalls and rarities from a general surgical pathology practice.Skeletal radiology · 2024Review
- Article
- CD34+ synovial fibroblasts exhibit high osteogenic potential in synovial chondromatosis.Cell and tissue research · 2024Article
- Superficial acral calcified chondroid mesenchymal neoplasm harboring an FN1::FGFR2 fusion and review of the literature.Journal of cutaneous pathology · 2024Review
- Mutation in theFrontiers in genetics · 2024Article
- Integrated computational screening and liquid biopsy approach to uncover the role of biomarkers for oral cancer lymph node metastasis.Scientific reports · 2023Article
- Subcutaneous chondromyxoid fibroma with a novel PNISR::GRM1 fusion-report of a primary soft tissue tumour without connection to an underlying bone.Virchows Archiv : an international journal of pathology · 2023Article
- Soft Tissue Masses of the Hand: A Review of Clinical Presentation and Imaging Features.Current oncology (Toronto, Ont.) · 2023Review
- Opinion: the nature of primary and secondary synovial chondromatosis: importance of pathological findings.Frontiers in oncology · 2023Article
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
Abstract
A fusion between fibronectin 1 (FN1) and activin receptor 2A (ACVR2A) has been reported previously in isolated cases of the synovial chondromatosis. To analyze further and validate the findings, we performed FISH and demonstrated recurrent FN1-ACVR2A rearrangements in synovial chondromatosis (57%), and chondrosarcoma secondary to synovial chondromatosis (75%), showing that FN1 and/or AVCR2A gene rearrangements do not distinguish between benign and malignant synovial chondromatosis. RNA sequencing revealed the presence of the FN1-ACVR2A fusion in several cases that were negative by FISH suggesting that the true prevalence of this fusion is potentially higher than 57%. In soft tissue chondromas, FN1 alterations were detected by FISH in 50% of cases but no ACVR2A alterations were identified. RNA sequencing identified a fusion involving FN1 and fibroblast growth factor receptor 2 (FGFR2) in the case of soft tissue chondroma and FISH confirmed recurrent involvement of both FGFR1 and FGFR2. These fusions were present in a subset of soft tissue chondromas characterized by grungy calcification, a feature reminiscent of phosphaturic mesenchymal tumor. However, unlike the latter, fibroblast growth factor 23 (FGF23) mRNA expression was not elevated in soft tissue chondromas harboring the FN1-FGFR1 fusion. The mutual exclusivity of ACVR2A rearrangements observed in synovial chondromatosis and FGFR1/2 in soft tissue chondromas suggests these represent separate entities. There have been no reports of malignant soft tissue chondromas, therefore differentiating these lesions will potentially alter clinical management by allowing soft tissue chondromas to be managed more conservatively.
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