Targeted RNA Sequencing of Ossifying Fibromyxoid Tumors Reveals Novel PHF1 Gene Fusions and Unusual Morphologic Features

Abstract

Ossifying fibromyxoid tumor (OFMT) is a rare mesenchymal tumor of uncertain differentiation and variable morphology. A subset of cases has a propensity for recurrence and metastasis with a possible fatal outcome, especially cases with atypical and malignant histologic features.

The majority of cases harbors pathogenic fusions. Most commonly, PHF1 is fused with various partners including EP400, MEAF6, EPC1 and TFE3.

We aimed to share our institutional experience with OFMT, focusing on its genetic background.