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Cancer Genomics Proteomics. 2019 Jul-Aug;16(4):293-298. doi: 10.21873/cgp.20134.

Fusion of the Genes WWTR1 and FOSB in Pseudomyogenic Hemangioendothelioma.

Author information

1
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway ioannis.panagopoulos@rr-research.no.
2
Department of Pathology, the Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
3
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
4
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.

Abstract

BACKGROUND/AIM:

Pseudomyogenic hemangioendothelioma 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.

KEYWORDS:

FOSB; Pseudomyogenic hemangioendothelioma; RNA sequencing; WWTR1; WWTR1-FOSB fusion gene

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