ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2016
Characterization of FN1-FGFR1 and novel FN1-FGF1 fusion genes in a large series of phosphaturic mesenchymal tumors.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers.
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95 citing papers in PubMed, 180 citations in OpenAlex.
- Infigratinib Reduces Fibroblast Growth Factor 23 (FGF23) and Increases Blood Phosphate in Tumor-Induced Osteomalacia.JBMR plus · 2022Trial
- Octreotide Is Ineffective in Treating Tumor-Induced Osteomalacia: Results of a Short-Term Therapy.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2017Trial
- Pediatric and Adult Sinonasal Phosphaturic Mesenchymal Tumors: CDKN2A Copy Number Alterations and Their Association with Recurrence.Head and neck pathology · 2026Article
- Recent research progress on the etiology and pathogenesis of tumor-induced osteomalacia: A review.Journal of bone oncology · 2026Review
- Phosphaturic Mesenchymal Tumor: From Invisibility to Bedridden Morbidity.Journal of the ASEAN Federation of Endocrine Societies · 2026Article
- Chondromyxoid fibroma with limited or no chondromyxoid stroma: A clinicopathological study of 3 cases.Virchows Archiv : an international journal of pathology · 2026Article
- When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia.Current osteoporosis reports · 2026Review
- Hypophosphatemic rickets: diagnosis and treatment.Archives of endocrinology and metabolism · 2026Review
- Decoding cellular communication networks and signaling pathways in bone, skeletal muscle, and bone-muscle crosstalk through spatial transcriptomics in a young male mouse.Bone research · 2026Article
- Article
- Solitary fibrous tumor: an updated review.Journal of pathology and translational medicine · 2026Article
- Calcified Chondroid Mesenchymal Neoplasm of the Temporomandibular Joint: A Rare and Recently Described Benign Tumor.Case reports in otolaryngology · 2026Article
- Surgical treatment as a key determinant of outcome in phosphaturic mesenchymal tumors of the bone and soft tissue: a systematic review and case series.EFORT open reviews · 2025Article
- Tenosynovitis with psammomatous calcifications: Series of 18 cases and review of the literature emphasizing a common source of expert consultation and updated differential diagnosis.Virchows Archiv : an international journal of pathology · 2025Review
- Treatment Advances in Tumor-Induced Osteomalacia.Calcified tissue international · 2025Review
- Case Report: Phosphaturic mesenchymal tumor presenting solely as knee pain without hypophosphatemia.Frontiers in oncology · 2025Article
- Approach to determining etiology of hypophosphatemia in a patient with coexisting phosphaturic mesenchymal tumor and fibrous dysplasia.JBMR plus · 2025Article
- Primary Intraosseous Solitary Fibrous Tumor of the Mandible: Report of a Diagnostically Challenging Case with NAB2::STAT6 Fusion and Review of the Literature.Head and neck pathology · 2024Review
- Article
- Malignant Bone-Forming Neoplasm With NIPBL::BEND2 Fusion.Genes, chromosomes & cancer · 2024Article
35 more citing papers are in PubMed but not listed here.
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21 authors at 16 institutions in 5 countries.
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Abstract
Phosphaturic mesenchymal tumors typically cause paraneoplastic osteomalacia, chiefly as a result of FGF23 secretion. In a prior study, we identified FN1-FGFR1 fusion in 9 of 15 phosphaturic mesenchymal tumors. In this study, a total of 66 phosphaturic mesenchymal tumors and 7 tumors resembling phosphaturic mesenchymal tumor but without known phosphaturia were studied. A novel FN1-FGF1 fusion gene was identified in two cases without FN1-FGFR1 fusion by RNA sequencing and cross-validated with direct sequencing and western blot. Fluorescence in situ hybridization analyses revealed FN1-FGFR1 fusion in 16 of 39 (41%) phosphaturic mesenchymal tumors and identified an additional case with FN1-FGF1 fusion. The two fusion genes were mutually exclusive. Combined with previous data, the overall prevalence of FN1-FGFR1 and FN1-FGF1 fusions was 42% (21/50) and 6% (3/50), respectively. FGFR1 immunohistochemistry was positive in 82% (45/55) of phosphaturic mesenchymal tumors regardless of fusion status. By contrast, 121 cases of potential morphologic mimics (belonging to 13 tumor types) rarely expressed FGFR1, the main exceptions being solitary fibrous tumors (positive in 40%), chondroblastomas (40%), and giant cell tumors of bone (38%), suggesting a possible role for FGFR1 immunohistochemistry in the diagnosis of phosphaturic mesenchymal tumor. With the exception of one case reported in our prior study, none of the remaining tumors resembling phosphaturic mesenchymal tumor had either fusion type or expressed significant FGFR1. Our findings provide insight into possible mechanisms underlying the pathogenesis of phosphaturic mesenchymal tumor and imply a central role of the FGF1-FGFR1 signaling pathway. The novel FN1-FGF1 protein is expected to be secreted and serves as a ligand that binds and activates FGFR1 to achieve an autocrine loop. Further study is required to determine the functions of these fusion proteins.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.