%0 Journal Article
%T Fusion of the Genes WWTR1 and FOSB in Pseudomyogenic Hemangioendothelioma
%A INGVILD LOBMAIER
%A IOANNIS PANAGOPOULOS
%A LUDMILA GORUNOVA
%A SVERRE HEIM
%J Archive of "Cancer Genomics & Proteomics".
%D 2019
%R 10.21873/cgp.20134
%X Background/Aim: Pseudomyogenic hemangioendo-thelioma is a rare endothelial tumor. Previous genetic investigations have shown that the tumors carry either a SERPINE1-FOSB or an ACTB-FOSB fusion gene. The aim of the study was to identify FOSB fusions linked with pseudomyogenic hemangioendothelioma. Materials and Methods: RNA sequencing, reverse transcription polymerase chain reaction (RT-PCR) and Sanger sequencing analyses were performed on a pseudomyogenic hemangioendothelioma. Results: An in-frame fusion was found between exon 4 of WWTR1 from 3q25 and exon 2 of FOSB from 19q13. The fusion gene not only places FOSB under the control of the WWTR1 promoter, but is predicted to encode a chimeric WWTR1-FOSB transcription factor. Conclusion: FOSB may be fused with SERPINE1, ACTB, or WWTR1 in pseudomyogenic hemangioendotheliomas. The resulting overexpression of FOSB fusion is a potentially useful marker that could be helpful in the diagnosis of these tumors
%K Pseudomyogenic hemangioendothelioma
%K WWTR1
%K FOSB
%K WWTR1-FOSB fusion gene
%K RNA sequencing
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6609259/