Fusion genes in angiomatoid fibrous histiocytoma
(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.
(Less)
- author
- 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
- organization
- publishing date
- 2007-06-18
- type
- Contribution to journal
- publication status
- 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
- pmid:17188428
- 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
- 2016-04-01 16:10:31
- date last changed
- 2022-02-12 20:20:25
@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}}, 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}}, 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}}, doi = {{10.1016/j.canlet.2006.11.014}}, volume = {{251}}, year = {{2007}}, }