Ossifying fibromyxoid tumor presenting EP400-PHF1 fusion gene
Ossifying fibromyxoid tumor presenting EP400-PHF1 fusion gene
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DOI：
10.1016/j.humpath.2013.04.003
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发表时间：
2013-11-01
期刊：
影响因子：
3.3
通讯作者：
Oda, Yoshinao
中科院分区：
文献类型：
--
作者：
Endo, Makoto;Kohashi, Kenichi;Oda, Yoshinao
摘要骨化性纤维黏液样肿瘤是一种罕见的软组织肿瘤，其性质为交界性恶性肿瘤，且无法鉴别。最近，一种新的融合基因，EP 400-PHF 1，被发现在骨化性纤维粘液样肿瘤，但它与这种类型的肿瘤一直不确定，因为EP 400-PHF 1融合基因已被成功地检测到只有1例。我们报告一例骨化性纤维粘液样瘤，逆转录聚合酶链反应检测到EP 400-PHF 1融合基因，沿着相容的细胞遗传学数据显示t（6;12）（p21;q24.3）易位。我们的研究结果表明，EP 400-PHF 1融合基因是一个可重复的发现在骨化性纤维粘液样肿瘤。(C)2013爱思唯尔公司All rights reserved.
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. (C) 2013 Elsevier Inc. All rights reserved.