Fusion genes in angiomatoid fibrous histiocytoma

Cancer Lett. 2007 Jun 18;251(1):158-63. doi: 10.1016/j.canlet.2006.11.014. Epub 2006 Dec 22.


Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor of low malignant potential and uncertain differentiation. Only three genetically investigated cases of AFH have been reported. Two of them displayed a FUS-ATF1 fusion gene and one showed an EWSR1-ATF1 chimera. Using RT-PCR analysis, we have identified the EWSR1-ATF1 fusion transcript, and delineated the genomic breakpoints, in two new cases of AFH. Previously, the EWSR1-ATF1 fusion protein has been suggested to activate expression of the MITF-M transcript, and therefore the expression pattern of the MITF gene was studied. The MITF-M transcript was not detected in either AFH, in line with the finding that the co-activator SOX10 was not expressed. Thus, of the five AFH that have been molecularly analyzed to date, two have displayed a FUS-ATF1 fusion gene and three have shown an EWSR1-ATF1 chimera. There is no apparent correlation between the type of fusion gene and clinicopathologic features. Nonetheless, RT-PCR for these fusion transcripts remains a valuable diagnostic adjunct in the distinction between AFH and other soft tissue tumors or metastases that may simulate it.

Publication types

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

MeSH terms

  • Activating Transcription Factor 1
  • Base Sequence
  • Bone Neoplasms / genetics
  • Bone Neoplasms / pathology
  • Calmodulin-Binding Proteins / genetics
  • Child
  • Clavicle
  • DNA-Binding Proteins / genetics
  • Histiocytoma, Malignant Fibrous / genetics
  • Histiocytoma, Malignant Fibrous / pathology*
  • Humans
  • Male
  • Nuclear Proteins / genetics
  • Oncogene Proteins, Fusion / genetics*
  • RNA-Binding Protein EWS
  • RNA-Binding Protein FUS / genetics
  • RNA-Binding Proteins / genetics
  • Regulatory Factor X Transcription Factors
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Spinal Neoplasms / genetics
  • Spinal Neoplasms / pathology
  • Spine
  • Transcription Factors


  • ATF1 protein, human
  • Activating Transcription Factor 1
  • Calmodulin-Binding Proteins
  • DNA-Binding Proteins
  • EWSR1 protein, human
  • Nuclear Proteins
  • Oncogene Proteins, Fusion
  • RNA-Binding Protein EWS
  • RNA-Binding Protein FUS
  • RNA-Binding Proteins
  • Regulatory Factor X Transcription Factors
  • Transcription Factors