A novel SERPINE1–FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma
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Date
2014
Journal Title
Journal ISSN
Volume Title
Publisher
The Journal of Pathology
Abstract
Pseudomyogenic haemangioendothelioma (PHE) is an intermediate malignant vascular soft tissue tumour primarily
affecting children and young adults. The molecular basis of this neoplasm is unknown. We here used chromosome
banding analysis, fluorescence in situ hybridization (FISH), mRNA sequencing, RT–PCR and quantitative realtime
PCR on a series of morphologically well-characterized PHEs to show that a balanced translocation,
t(7;19)(q22;q13), detected as the sole cytogenetic aberration in two cases, results in fusion of the SERPINE1
and FOSB genes. This translocation has not been observed in any other bone or soft tissue tumour. Interphase
FISH on sections from eight additional PHEs identified the same SERPINE1–FOSB fusion in all cases. The role of
SERPINE1, which is highly expressed in vascular cells, in this gene fusion is probably to provide a strong promoter
for FOSB, which was found to be expressed at higher levels in PHEs than in other soft tissue tumours. FOSB
encodes a transcription factor belonging to the FOS family of proteins, which, together with members of the JUN
family of transcription factors, are major components of the activating protein 1 (AP-1) complex. Further studies
are needed to understand the cellular impact of the aberrant expression of the FOSB gene, but as the t(7;19)
resulting in the SERPINE1–FOSB fusion seems to be pathognomonic for PHE, FISH or RT–PCR could be useful for
differential diagnostic purposes.
Description
Keywords
Pseudomyogenic haemangioendothelioma, Gene fusion, SERPINE1, FOSB, RNA sequencing, Sarcoma, Paediatric
Citation
Walther, C., Tayebwa, J., Lilljebjörn, H., Magnusson, L., Nilsson, J., von Steyern, F. V., ... & Mertens, F. (2014). A novel SERPINE1–FOSB fusion gene results in transcriptional up‐regulation of FOSB in pseudomyogenic haemangioendothelioma. The Journal of Pathology, 232(5), 534-540. DOI: 10.1002/path.4322