A case of FN1-fused calcified chondroid mesenchymal neoplasm of the hand with novel FGFR3 partner gene Journal Article
| Authors: | Georgantzoglou, N.; Shen, G.; Jour, G.; Linos, K. |
| Article Title: | A case of FN1-fused calcified chondroid mesenchymal neoplasm of the hand with novel FGFR3 partner gene |
| Abstract: | Calcified chondroid neoplasms with FN1::FGFR1 or FGFR2 fusions constitute a recently described category of mesenchymal neoplasms mostly encountered in the extremities and temporomandibular joint. Herein, we report a case of FNI1-fused calcified chondroid neoplasm of the hand with a novel FGFR3 fusion partner. The tumor exhibited a multilobulated growth pattern composed of epithelioid cells embedded in abundant stroma with myxoid, chondroid, and fibrous areas and scattered osteoclast-like giant cells. RNA sequencing revealed an in-frame fusion between Exon 31 of FN1 and Exon 3 of FGFR3, which was subsequently confirmed by reverse transcription-polymerase chain reaction. Our findings expand on the spectrum of potential fusion partners in FN1-fused calcified chondroid neoplasms. © 2022 Wiley Periodicals LLC. |
| Keywords: | immunohistochemistry; clinical article; human tissue; aged; human cell; exon; genetics; case report; nuclear magnetic resonance imaging; follow up; tumor localization; reverse transcription polymerase chain reaction; fibroblast growth factor receptor 3; needle biopsy; gene fusion; osteoclast; physical examination; tumor growth; soft tissue tumor; receptor, fibroblast growth factor, type 3; hand surgery; hand tumor; humans; human; female; article; rna sequencing; fgfr; fgfr3 protein, human; hand injury; hand radiography; giant cell tumor of tendon sheath; soft tissue swelling; epithelioid histiocyte; neoplasms, connective and soft tissue; calcified; chondroid; fni1; chondroid mesenchymal neoplasm of the hand; fn1 fgfr3 gene; hand swelling |
| Journal Title: | Genes Chromosomes and Cancer |
| Volume: | 62 |
| Issue: | 4 |
| ISSN: | 1045-2257 |
| Publisher: | Wiley Periodicals, Inc |
| Date Published: | 2023-04-01 |
| Start Page: | 237 |
| End Page: | 241 |
| Language: | English |
| DOI: | 10.1002/gcc.23115 |
| PUBMED: | 36504176 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Article -- Export Date: 1 March 2023 -- Source: Scopus |
