Primary intracerebral angiomatoid fibrous histiocytoma: report of a case with a t(12;22)(q13;q12) causing type 1 fusion of the EWS and ATF-1 genes

Am J Surg Pathol. 2008 Mar;32(3):478-84. doi: 10.1097/PAS.0b013e3181453451.

Abstract

Angiomatoid fibrous histiocytoma (AFH) is generally considered a soft tissue sarcoma of low malignant potential that occurs in children/young adults and most frequently affects the extremities. AFH infrequently recurs and rarely metastasizes. AFH has a characteristic histomorphology, and immunohistochemical reactivities for desmin and CD68 have led to myofibroblastic and fibrohistiocytic histogenetic hypotheses, respectively. Although only a limited number of AFH cases have been molecularly characterized, many have demonstrated evidence of an underlying translocation event. Reverse transcription-polymerase chain reaction and fluorescence in situ hybridization studies suggest that chromosomal rearrangement in AFH most frequently involve the EWS, CREB, ATF-1, and FUS genes. We report the first pathologically confirmed case of an AFH presenting as an intracerebral primary in a previously healthy 25-year-old man. Genetic analyses revealed a t(12;22)(q13;q12) and a unique underlying clear cell sarcomalike type 1 EWS/ATF-1 gene fusion.

Publication types

  • Case Reports

MeSH terms

  • Activating Transcription Factor 1
  • Adult
  • Base Sequence
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 22*
  • DNA-Binding Proteins / genetics*
  • Gene Fusion*
  • Histiocytoma, Malignant Fibrous / genetics*
  • Histiocytoma, Malignant Fibrous / pathology
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Nuclear Proteins / genetics*
  • RNA-Binding Protein EWS / genetics*
  • Regulatory Factor X Transcription Factors
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transcription Factors
  • Translocation, Genetic*

Substances

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