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Novel recurrent PHF1‐TFE3 fusions in ossifying fibromyxoid tumors

28 Mar 2019

Abstract excerpt

Ossifying fibromyxoid tumor (OFMT) is an uncommon mesenchymal neoplasm of uncertain differentiation and intermediate malignant potential. Recurrent PHF1 gene rearrangements are detected in up to 80% of OFMTs. We describe the clinicopathologic features of five OFMTs harboring a novel PHF1-TFE3 fusion. In two cases, RNA sequencing identified a fusion transcript composed of PHF1 exon 11 fused to TFE3 exon 3, whereas...

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PMID: 30920708
DOI: 10.1002/gcc.22755

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