Ossifying fibromyxoid tumour with an unusually prominent central ossification harbouring EPC1-PHF1 gene fusion: A case report and literature review

Abstract

Ossifying fibromyxoid tumour (OFMT) is a soft tissue neoplasm of uncertain differentiation, with potential for recurrences and metastases depending on the presence of atypical or malignant histological features. Most cases show an incomplete shell of mature bone in the periphery of the lesion. Recurrent PHF1 gene rearrangements were also recently reported in OFMTs, with the most common rearrangement involving a fusion to EP400. We report a case of a 75-year-old male that was diagnosed with an OFMT showing an unusually prominent central ossification. Further, this lesion also harboured the less commonly reported EPC1-PHF1 gene fusion, thus further characterising the morphological features that are associated with this molecular event in this entity. Differential diagnoses of lesions with prominent ossification and emerging molecular findings associated with this entity are discussed.