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Fusion genes in angiomatoid fibrous histiocytoma

Hansén Nord, Karolin LU ; Micci, Francesca; Meis-Kindblom, Jeanne M; Kindblom, Lars-Gunnar; Bacchini, Patrizia; Mandahl, Nils LU ; Mertens, Fredrik LU and Panagopoulos, Ioannis LU (2007) In Cancer Letters 251(1). p.158-163
Abstract

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... (More)

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.

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published
subject
keywords
Activating Transcription Factor 1, Base Sequence, Bone Neoplasms, Calmodulin-Binding Proteins, Child, Clavicle, DNA-Binding Proteins, Histiocytoma, Malignant Fibrous, Humans, Male, Nuclear Proteins, Oncogene Proteins, Fusion, RNA-Binding Protein FUS, RNA-Binding Proteins, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, DNA, Spinal Neoplasms, Spine, Transcription Factors, Case Reports, Journal Article, Research Support, Non-U.S. Gov't
in
Cancer Letters
volume
251
issue
1
pages
6 pages
publisher
Elsevier
external identifiers
  • wos:000246637700016
  • scopus:34247149350
ISSN
1872-7980
DOI
10.1016/j.canlet.2006.11.014
language
English
LU publication?
yes
id
4dfdab6c-e09d-4afd-b8a1-b9774391453f (old id 659671)
date added to LUP
2007-12-07 15:01:33
date last changed
2017-09-10 04:31:02
@article{4dfdab6c-e09d-4afd-b8a1-b9774391453f,
  abstract     = {<p>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.</p>},
  author       = {Hansén Nord, Karolin and Micci, Francesca and Meis-Kindblom, Jeanne M and Kindblom, Lars-Gunnar and Bacchini, Patrizia and Mandahl, Nils and Mertens, Fredrik and Panagopoulos, Ioannis},
  issn         = {1872-7980},
  keyword      = {Activating Transcription Factor 1,Base Sequence,Bone Neoplasms,Calmodulin-Binding Proteins,Child,Clavicle,DNA-Binding Proteins,Histiocytoma, Malignant Fibrous,Humans,Male,Nuclear Proteins,Oncogene Proteins, Fusion,RNA-Binding Protein FUS,RNA-Binding Proteins,Reverse Transcriptase Polymerase Chain Reaction,Sequence Analysis, DNA,Spinal Neoplasms,Spine,Transcription Factors,Case Reports,Journal Article,Research Support, Non-U.S. Gov't},
  language     = {eng},
  month        = {06},
  number       = {1},
  pages        = {158--163},
  publisher    = {Elsevier},
  series       = {Cancer Letters},
  title        = {Fusion genes in angiomatoid fibrous histiocytoma},
  url          = {http://dx.doi.org/10.1016/j.canlet.2006.11.014},
  volume       = {251},
  year         = {2007},
}