Ossifying fibromyxoid tumor presenting EP400-PHF1 fusion gene.

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

Human pathology 2013 Nov

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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. Copyright © 2013 Elsevier Inc. All rights reserved.

Citation

Makoto Endo, Kenichi Kohashi, Hidetaka Yamamoto, Takeaki Ishii, Tatsuya Yoshida, Tomoya Matsunobu, Yukihide Iwamoto, Yoshinao Oda. Ossifying fibromyxoid tumor presenting EP400-PHF1 fusion gene. Human pathology. 2013 Nov;44(11):2603-8