Ossifying fibromyxoid tumor presenting EP400-PHF1 fusion gene

Hum Pathol. 2013 Nov;44(11):2603-8. doi: 10.1016/j.humpath.2013.04.003. Epub 2013 Jun 24.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Base Sequence
  • Chromosomes, Human, Pair 12 / genetics
  • Chromosomes, Human, Pair 6 / genetics
  • Cytogenetic Analysis
  • DNA Helicases / genetics*
  • DNA Helicases / metabolism
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Disease-Free Survival
  • Female
  • Fibroma, Ossifying / genetics*
  • Fibroma, Ossifying / pathology
  • Gene Fusion
  • Hand / diagnostic imaging*
  • Humans
  • Immunohistochemistry
  • Karyotype
  • Molecular Sequence Data
  • Polycomb-Group Proteins
  • Radiography
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Soft Tissue Neoplasms / genetics*
  • Soft Tissue Neoplasms / pathology
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism
  • Translocation, Genetic

Substances

  • DNA-Binding Proteins
  • PHF1 protein, human
  • Polycomb-Group Proteins
  • Transcription Factors
  • DNA Helicases
  • EP400 protein, human