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 journalArticle

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Abstract

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
Volume44
Issue number11
DOIs
Publication statusPublished - Nov 1 2013

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Gene Fusion
Neoplasms
Reverse Transcriptase Polymerase Chain Reaction
Cytogenetics

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

Cite this

Ossifying fibromyxoid tumor presenting EP400-PHF1 fusion gene. / Endo, Makoto; Kohashi, Kenichi; Yamamoto, Hidetaka; Ishii, Takeaki; Yoshida, Tatsuya; Matsunobu, Tomoya; Iwamoto, Yukihide; Oda, Yoshinao.

In: Human Pathology, Vol. 44, No. 11, 01.11.2013, p. 2603-2608.

Research output: Contribution to journalArticle

Endo, Makoto ; Kohashi, Kenichi ; Yamamoto, Hidetaka ; Ishii, Takeaki ; Yoshida, Tatsuya ; Matsunobu, Tomoya ; Iwamoto, Yukihide ; Oda, Yoshinao. / Ossifying fibromyxoid tumor presenting EP400-PHF1 fusion gene. In: Human Pathology. 2013 ; Vol. 44, No. 11. pp. 2603-2608.
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