Fusion genes in angiomatoid fibrous histiocytoma

• Published in: Cancer letters Vol. 251; no. 1; pp. 158 - 163
• Main Authors: Hallor, Karolin H, Micci, Francesca, Meis-Kindblom, Jeanne M, Kindblom, Lars-Gunnar, Bacchini, Patrizia, Mandahl, Nils, Mertens, Fredrik, Panagopoulos, Ioannis
• Format: Journal Article
• Language: English
• Published: Ireland Elsevier Ireland Ltd 18.06.2007; Elsevier Limited
• Subjects: Activating Transcription Factor 1; Angiomatoid fibrous histiocytoma; ATF1; Base Sequence; Basic Medicine; Bone Neoplasms; Bone Neoplasms - genetics; Bone Neoplasms - pathology; Calmodulin-Binding Proteins; Calmodulin-Binding Proteins - genetics; Cancer and Oncology; Cancer och onkologi; Case Reports; Child; Clavicle; Clear cell sarcoma; Clinical Medicine; Deoxyribonucleic acid; DNA; DNA-Binding Proteins; DNA-Binding Proteins - genetics; EWSR1; Genes; Hematology, Oncology and Palliative Medicine; Histiocytoma, Malignant Fibrous; Histiocytoma, Malignant Fibrous - genetics; Histiocytoma, Malignant Fibrous - pathology; Humans; Klinisk medicin; Male; Medical and Health Sciences; Medical Genetics; Medicin och hälsovetenskap; Medicinsk genetik; Medicinska och farmaceutiska grundvetenskaper; MITF; Nuclear Proteins; Nuclear Proteins - genetics; Oncogene Proteins, Fusion; Oncogene Proteins, Fusion - genetics; Proteins; Regulatory Factor X Transcription Factors; Research Support, Non-U.S. Gov't; Reverse Transcriptase Polymerase Chain Reaction; RNA-Binding Protein EWS; RNA-Binding Protein FUS; RNA-Binding Protein FUS - genetics; RNA-Binding Proteins; RNA-Binding Proteins - genetics; Sequence Analysis, DNA; SOX10; Spinal Neoplasms; Spinal Neoplasms - genetics; Spinal Neoplasms - pathology; Spine; Transcription Factors; Tumors; ATF1; Angiomatoid fibrous histiocytoma; Clear cell sarcoma; MITF; EWSR1; SOX10
• ISSN: 0304-3835; 1872-7980; 1872-7980
• DOI: 10.1016/j.canlet.2006.11.014

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 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.