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Ossifying fibromyxoid tumours with lipomatous and cartilaginous differentiation: A diagnostic pitfall

N. Klubíčková, S. Billings, JKT. Dermawan, JF. Molligan, K. Fritchie

. 2025 ; 86 (6) : 891-899. [pub] 20241220

Language English Country England, Great Britain

Document type Journal Article, Case Reports

Persistent link   https://www.medvik.cz/link/bmc25015984

Grant support
Univerzita Karlova v Praze
Ministerstvo Školství, Mládeže a Tělovýchovy

AIMS: Ossifying fibromyxoid tumour is a rare mesenchymal neoplasm predominantly affecting adults characterised by a multinodular growth pattern and the presence of a fibrous pseudocapsule with areas of ossification. Prompted by the recognition of a non-ossifying ossifying fibromyxoid tumour with lipomatous differentiation which caused diagnostic difficulty, we sought to further explore cases of ossifying fibromyxoid tumour with non-osseous heterologous elements. METHODS AND RESULTS: A search of our institutional and consultation archives revealed three additional cases that demonstrated lipomatous components and two cases with cartilaginous differentiation. RNA-sequencing revealed fusions involving PHF1 (n = 4) or EPC1 (n = 1) in all (five of five) cases tested, including EPC1::PHC1 and JAZF1::PHF1 fusions, which have not been reported before in ossifying fibromyxoid tumour. CONCLUSION: These six cases expand the histomorphological spectrum of ossifying fibromyxoid tumour, introducing lipomatous differentiation as a hitherto undocumented feature. Awareness of these rare variants will ensure appropriate diagnosis and clinical management.

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