Ossifying fibromyxoid tumor presenting EP400-PHF1 fusion gene

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

doi:10.1016/j.humpath.2013.04.003

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 journal › Article › peer-review

33 Citations (Scopus)

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 language	English
Pages (from-to)	2603-2608
Number of pages	6
Journal	Human Pathology
Volume	44
Issue number	11
DOIs	https://doi.org/10.1016/j.humpath.2013.04.003
Publication status	Published - Nov 2013

All Science Journal Classification (ASJC) codes

Pathology and Forensic Medicine

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10.1016/j.humpath.2013.04.003

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title = "Ossifying fibromyxoid tumor presenting EP400-PHF1 fusion gene",

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.",

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

note = "Funding Information: Y.O. is supported by a Grant-in-Aid for Scientific Research (B) (No. 21390107 ) from the Japan Society for the Promotion of Science . M.E. is a Japan Society for the Promotion of Science research fellow. ",

year = "2013",

month = nov,

doi = "10.1016/j.humpath.2013.04.003",

language = "English",

volume = "44",

pages = "2603--2608",

journal = "Human Pathology",

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T1 - Ossifying fibromyxoid tumor presenting EP400-PHF1 fusion gene

AU - Endo, Makoto

AU - Kohashi, Kenichi

AU - Yamamoto, Hidetaka

AU - Ishii, Takeaki

AU - Yoshida, Tatsuya

AU - Matsunobu, Tomoya

AU - Iwamoto, Yukihide

AU - Oda, Yoshinao

N1 - Funding Information: Y.O. is supported by a Grant-in-Aid for Scientific Research (B) (No. 21390107 ) from the Japan Society for the Promotion of Science . M.E. is a Japan Society for the Promotion of Science research fellow.

PY - 2013/11

Y1 - 2013/11

N2 - 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.

AB - 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.

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JO - Human Pathology

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ER -

Ossifying fibromyxoid tumor presenting EP400-PHF1 fusion gene

Abstract

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