Fusion genes in angiomatoid fibrous histiocytoma
Författare
Summary, in English
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.
Avdelning/ar
Publiceringsår
2007-06-18
Språk
Engelska
Sidor
158-163
Publikation/Tidskrift/Serie
Cancer Letters
Volym
251
Issue
1
Dokumenttyp
Artikel i tidskrift
Förlag
Elsevier
Ämne
- Cancer and Oncology
- Medical Genetics
Nyckelord
- 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
Status
Published
ISBN/ISSN/Övrigt
- ISSN: 1872-7980