Fusion events lead to truncation of FOS in epithelioid hemangioma of bone

• DOI: 10.1002/gcc.22269
• Publication Date: 2015-07-14T23:25:09Z
• Authors: David G. P. van I...; Danielle de Jong; Cleofe Romagosa; Piero Picci; Maria Serena Benassi; Marco Gambarotti; Soeren Daugaard; Michiel van de Sande; Karoly Szuhai; Judith V. M. G. B...
• Keywords: Epithelioid Hemangioendothelioma; Breakpoint

Epithelioid hemangioma of bone is a locally aggressive vascular neoplasm. It can be challenging to diagnose because the wide histological spectrum, which make it difficult differentiate from other neoplasms such as epithelioid hemangioendothelioma or angiosarcoma. COBRA‐FISH karyotyping identified balanced t(3;14) translocation. Transcriptome sequencing index case and two hemangiomas revealed recurrent translocation breakpoint involving FOS gene, was fused different partners in all three cases. The break observed exon 4 gene fusion event led introduction stop codon. In instances, truncation would result loss transactivation domain (TAD). Using FISH probes we found additional cases, none these cases partner could identified. total, split 5/7 evaluable samples. We did not observe point mutations leading early codons any 10 where RNA available. Detection rearrangement may useful diagnostic tool assist often differential diagnosis tumors bone. Our data suggest that causes protein, with TAD, thereby novel mechanism involved tumorigenesis. © 2015 Wiley Periodicals, Inc.