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.
Keywords:
EP400; Fusion gene; Ossifying fibromyxoid tumor; PHF1; RT-PCR.
Copyright © 2013 Elsevier Inc. All rights reserved.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Aged
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Base Sequence
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Chromosomes, Human, Pair 12 / genetics
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Chromosomes, Human, Pair 6 / genetics
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Cytogenetic Analysis
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DNA Helicases / genetics*
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DNA Helicases / metabolism
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DNA-Binding Proteins / genetics*
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DNA-Binding Proteins / metabolism
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Disease-Free Survival
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Female
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Fibroma, Ossifying / genetics*
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Fibroma, Ossifying / pathology
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Gene Fusion
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Hand / diagnostic imaging*
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Humans
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Immunohistochemistry
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Karyotype
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Molecular Sequence Data
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Polycomb-Group Proteins
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Radiography
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Reverse Transcriptase Polymerase Chain Reaction
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Sequence Analysis, DNA
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Soft Tissue Neoplasms / genetics*
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Soft Tissue Neoplasms / pathology
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Transcription Factors / genetics*
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Transcription Factors / metabolism
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Translocation, Genetic
Substances
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DNA-Binding Proteins
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PHF1 protein, human
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Polycomb-Group Proteins
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Transcription Factors
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DNA Helicases
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EP400 protein, human