EWSR1‐CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma

• DOI: 10.1002/gcc.20491
• Publication Date: 2007-08-27T21:18:24Z
• Authors: Cristina R. Anton...; Paola Dal Cin; Khedoudja Nafa; Lisa A. Teot; Urvashi Surti; Christopher D. Fl...; Marc Ladanyi
• Keywords: CREB1; Cell fusion

Abstract The molecular hallmark of angiomatoid fibrous histiocytoma (AFH) is not well defined, with only six cases specific gene fusions reported to date, consisting either FUS‐ATF1 or EWSR1‐ATF1 . To address this, we investigated the presence , and highly related EWSR1‐CREB1 fusion in a group nine AFHs. All were subjected RT‐PCR for FISH EWSR1 FUS rearrangements was performed most cases. Transcriptional profiling three tumors their expression compared five clear cell sarcomas expressing fusion. By RT‐PCR, eight out showed fusion, while one had an transcript. evidence rearrangement seven Karyotypic analysis tumor t(2;22)(q33;q12). High transcript levels noted TFE3 AFH tumors, overexpression genes involved melanogenesis, such as MITF, GP100 MET somatic sarcomas. We report first time AFH, which now appears be frequent this tumor. novel translocation recently described sarcoma GI tract. identified some cases, common genetic abnormality soft tissue sarcoma. Thus, identical involving ATF1 CREB1 are found two distinct sarcomas, may able transform different types mesenchymal precursor cells, unlike other fusions. © 2007 Wiley‐Liss, Inc.