t(2;8)(q35;p11) FN1::FGFR1
Oncogenic mechanisms
Constitutive activation of FGFR signaling
Tumor type
phosphaturic mesenchymal tumors
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33490314 | 2021 | Hiding in plain sight: Gene panel and genetic markers reveal 26-year undiagnosed tumor-induced osteomalacia of the rib concurrently misdiagnosed as X-linked hypophosphatemia. | 33 |
| 31273315 | 2019 | Synovial chondromatosis and soft tissue chondroma: extraosseous cartilaginous tumor defined by FN1 gene rearrangement. | 27 |
| 35991529 | 2022 | Infigratinib Reduces Fibroblast Growth Factor 23 (FGF23) and Increases Blood Phosphate in Tumor-Induced Osteomalacia. | 24 |
| 29043208 | 2017 | Phosphaturic mesenchymal tumor (PMT): exceptionally rare disease, yet crucial not to miss. | 22 |
| 36686800 | 2022 | Case report: Novel NIPBL-BEND2 fusion gene identified in osteoblastoma-like phosphaturic mesenchymal tumor of the fibula. | 21 |
| 26464698 | 2015 | Fibroblast growth factor receptor 1 (FGFR1) expression in phosphaturic mesenchymal tumors. | 16 |
| 29380000 | 2018 | Tumor-induced osteomalacia in association with PTEN-negative Cowden syndrome. | 10 |
| 32382367 | 2020 | Stumbling upon the unexpected: A unique presentation of phosphaturic mesenchymal tumor in the hindfoot. | 8 |
| 36327295 | 2023 | Tumor-induced Osteomalacia: A Comprehensive Review. | 0 |
| 33727696 | 2021 | Calcified chondroid mesenchymal neoplasms with FN1-receptor tyrosine kinase gene fusions including FGFR2, FGFR1, MERTK, NTRK1, and TEK: a molecular and clinicopathologic analysis. | 0 |
| 37391169 | 2023 | RNA Sequencing Reveals Novel Oncogenic Fusions and Depicts Detailed Fusion Transcripts of FN1-FGFR1 in Phosphaturic Mesenchymal Tumors. | 0 |
| 27443518 | 2016 | Characterization of FN1-FGFR1 and novel FN1-FGF1 fusion genes in a large series of phosphaturic mesenchymal tumors. | 0 |
| 25319834 | 2015 | Identification of a novel FN1-FGFR1 genetic fusion as a frequent event in phosphaturic mesenchymal tumour. | 0 |
| 29446010 | 2018 | Phosphaturic mesenchymal tumors: what an endocrinologist should know. | 0 |
| 39945063 | 2025 | Primary Cutaneous Spindle Cell Sarcoma With FN1::FGFR1 Fusion. | 0 |
| 37742927 | 2023 | Klotho Overexpression Is Frequently Associated With Upstream Rearrangements in Fusion-Negative Phosphaturic Mesenchymal Tumors of Bone and Sinonasal Tract. | 0 |
| 31792355 | 2020 | Frequent overexpression of klotho in fusion-negative phosphaturic mesenchymal tumors with tumorigenic implications. | 0 |
| 36504176 | 2023 | A case of FN1-fused calcified chondroid mesenchymal neoplasm of the hand with novel FGFR3 partner gene. | 0 |
| 39798957 | 2025 | Calcified chondroid mesenchymal neoplasm: a clinicopathological and molecular analysis. | 0 |
| 33151412 | 2021 | Clinicopathologic and molecular features of six cases of phosphaturic mesenchymal tumor. | 0 |
| 29514106 | 2018 | Phosphaturic mesenchymal tumor without osteomalacia: additional confirmation of the "nonphosphaturic" variant, with emphasis on the roles of FGF23 chromogenic in situ hybridization and FN1-FGFR1 fluorescence in situ hybridization. | 0 |
| 31066955 | 2019 | Genetic profiling of a chondroblastoma-like osteosarcoma/malignant phosphaturic mesenchymal tumor of bone reveals a homozygous deletion of CDKN2A, intragenic deletion of DMD, and a targetable FN1-FGFR1 gene fusion. | 0 |
| 28858396 | 2018 | Histopathological and genetic review of phosphaturic mesenchymal tumours, mixed connective tissue variant. | 0 |
| 26407099 | 2016 | From epistaxis to bone pain-report of two cases illustrating the clinicopathological spectrum of phosphaturic mesenchymal tumour with fibroblast growth factor receptor 1 immunohistochemical and cytogenetic analyses. | 0 |
Bibliography
| Pubmed ID | Publication Year | Title | Authors |
|---|---|---|---|
| 25319834 | 2015 | Identification of a novel FN1-FGFR1 genetic fusion as a frequent event in phosphaturic mesenchymal tumour. | Lee JC, et al |
| 27443518 | 2016 | Characterization of FN1-FGFR1 and novel FN1-FGF1 fusion genes in a large series of phosphaturic mesenchymal tumors. | Lee JC, et al |
