Ossifying fibromyxoid tumor presenting EP400-PHF1 fusion gene

Makoto Endo, Kenichi Kohashi, Hidetaka Yamamoto, Takeaki Ishii, Tatsuya Yoshida, Tomoya Matsunobu, Yukihide Iwamoto, Yoshinao Oda

Research output: Contribution to journalArticlepeer-review

33 Citations (Scopus)


Ossifying fibromyxoid tumor is a rare soft tissue tumor of borderline malignancy and uncertain differentiation. Recently, a novel fusion gene, EP400-PHF1, was discovered in ossifying fibromyxoid tumor; however, its relation to this type of tumor has been uncertain because the EP400-PHF1 fusion gene has been successfully detected in only 1 case. We present an ossifying fibromyxoid tumor case with the EP400-PHF1 fusion gene detected by reverse transcriptase polymerase chain reaction, along with compatible cytogenetic data showing a t(6;12)(p21;q24.3) translocation. Our results suggest that the EP400-PHF1 fusion gene is a reproducible finding in ossifying fibromyxoid tumor.

Original languageEnglish
Pages (from-to)2603-2608
Number of pages6
JournalHuman Pathology
Issue number11
Publication statusPublished - Nov 2013

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine


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