ArticleGenes, chromosomes & cancer2020
A molecular study of synovial chondromatosis.
Article in Genes, chromosomes & cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 55 citations in OpenAlex.
- Chondroid Soft Tissue Tumors With FOS::PABPN1 Fusion: A New Entity? About Two Cases.Genes, chromosomes & cancer · 2026Article
- Synovial Chondromatosis Harboring a Novel FOS::PAPPA Fusion: Expanding the Phenotypic Spectrum of FOS-Rearranged Neoplasms.Pathology international · 2026Article
- Arthroscopic Management of Metacarpophalangeal Joint Synovial Chondromatosis.Journal of wrist surgery · 2026Article
- Synovial Chondromatosis of the Elbow: A Case Report and Discussion of Feared Complications.Cureus · 2026Article
- Arthroscopic Management of Primary Synovial Chondromatosis of the Ankle: A Case Report and Review of the Literature.Orthopedic research and reviews · 2026Article
- Calcified Chondroid Mesenchymal Neoplasm of the Temporomandibular Joint: A Rare and Recently Described Benign Tumor.Case reports in otolaryngology · 2026Article
- Targeting TIMM23 to overcome osteosarcoma chemoresistance.Cell death & disease · 2025Article
- Rare presentation of primary synovial chondrosarcoma arising in the shoulder: a case report.Skeletal radiology · 2025Article
- Loose Bodies Found in the Human Intra-Articular Space Showed Characteristics Similar to Endochondral Bone Formation.Cartilage · 2024Article
- [Synovial chondromatosis : Results from the histopathological arthritis register of the German Society for Orthopedic Rheumatology].Zeitschrift fur Rheumatologie · 2024Article
- Extensive Synovial Chondromatosis of the Temporomandibular Joint Extending to the Cranial Base.Diagnostics (Basel, Switzerland) · 2024Article
- Pathology of intra-articular tumours and tumour-like lesions: pearls, pitfalls and rarities from a general surgical pathology practice.Skeletal radiology · 2024Review
- CD34+ synovial fibroblasts exhibit high osteogenic potential in synovial chondromatosis.Cell and tissue research · 2024Article
- Mutation in theFrontiers in genetics · 2024Article
- A rare case report of tenosynovial chondromatosis of the semimembranosus-medial collateral ligament bursa.BMC musculoskeletal disorders · 2023Article
- Gene fusions are frequent in ACTH-secreting neuroendocrine neoplasms of the pancreas, but not in their non-pancreatic counterparts.Virchows Archiv : an international journal of pathology · 2023Article
- Management of temporomandibular joint diseases: a rare case report of coexisting calcium pyrophosphate crystal deposition and synovial chondromatosis.BMC oral health · 2022Article
- Detection of sarcoma fusions by a next-generation sequencing based-ligation-dependent multiplex RT-PCR assay.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Soft Tissue Tumors.Head and neck pathology · 2022Review
- Surgical hip dislocation for treatment of synovial chondromatosis of the hip.International orthopaedics · 2021Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
Synovial chondromatosis (SC) is a rare benign cartilaginous neoplasm in which recurrent fibronectin 1 (FN1) and activin receptor 2A (ACVR2A) gene rearrangements have been recently reported. Triggered by a case of malignant transformation in SC (synovial chondrosarcoma) showing a novel KMT2A-BCOR gene fusion by targeted RNA sequencing, we sought to evaluate the molecular abnormalities in a cohort of 27 SC cases using a combined methodology of fluorescence in situ hybridization (FISH) and/or targeted RNA sequencing. Results showed that FN1 and /or ACVR2A gene rearrangements were noted in 18 cases (67%), with an FN1-ACVR2A fusion being confirmed in 15 (56%) cases. Two cases showed only FN1 gene rearrangement, without other abnormalities. A novel FN1-NFATc2 gene fusion was noted in one case by RNA sequencing. The remaining nine cases showed no abnormalities in FN1 and ACVR2A genes. No additional cases showed BCOR gene alterations. In conclusion, this study confirms that FN1-ACVR2A fusion is the leading pathogenetic event in SC, at even higher frequency than previously reported. FISH methodology emerges as an appropriate tool in the identification of FN1 and ACVR2A gene abnormalities, which can be used in challenging cases. Further studies are needed to determine the recurrent potential of BCOR abnormalities in this disease.
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Registered trials
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