Genetic characterization of angiomatoid fibrous histiocytoma identifies fusion of the FUS and ATF-1 genes induced by a chromosomal translocation involving bands 12q13 and 16p11

Cancer Genet Cytogenet. 2000 Sep;121(2):109-16. doi: 10.1016/s0165-4608(00)00237-5.


This case report documents the first karyotypic, fluorescence in situ hybridization, and genetic analysis of an angiomatoid fibrous histiocytoma that arose and recurred in the arm of a 5.5-year-old girl. Complex rearrangements between chromosomes 2, 12, 16, and 17 were noted, as well as deletion in the long arm of chromosome 11. Flow cytometry revealed a normal cell population. The t(12;16) site was further investigated using reverse transcriptase-polymerase chain reaction. We found that the FUS (also known as TLS) gene from 16p11 combined with the ATF-1 gene from 12q13 to generate a chimeric FUS/ATF-1. The FUS gene is rearranged in the t(12;16)(q13;p11) that characterizes myxoid liposarcoma and in acute myeloid leukemia with t(16;21)(p11;q22), while the ATF-1 gene is rearranged in the t(12;22)(q13;q12) found recurrently in clear cell sarcomas (malignant melanoma of soft parts). Thus, the FUS/ATF-1 gene in angiomatoid fibrous histiocytoma is predicted to code for a protein that is very similar to the chimeric EWS/ATF-1 found in clear cell sarcoma.

Publication types

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

MeSH terms

  • Activating Transcription Factor 1
  • Amino Acid Sequence
  • Artificial Gene Fusion*
  • Base Sequence
  • Child
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 16*
  • DNA, Complementary
  • DNA-Binding Proteins*
  • Female
  • Hemangioma / genetics*
  • Heterogeneous-Nuclear Ribonucleoproteins
  • Histiocytoma, Benign Fibrous / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Molecular Sequence Data
  • RNA-Binding Protein EWS
  • RNA-Binding Protein FUS
  • Ribonucleoproteins / genetics*
  • Soft Tissue Neoplasms / genetics*
  • Transcription Factors / genetics*
  • Translocation, Genetic*


  • Activating Transcription Factor 1
  • DNA, Complementary
  • DNA-Binding Proteins
  • Heterogeneous-Nuclear Ribonucleoproteins
  • RNA-Binding Protein EWS
  • RNA-Binding Protein FUS
  • Ribonucleoproteins
  • Transcription Factors