A novel SERPINE1–FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma

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dc.contributor.authorWalther, Charles
dc.contributor.authorTayebwa, Johnbosco
dc.contributor.authorLilljebjorn, Henrik
dc.contributor.authorMagnusson, Linda
dc.contributor.authorNilsson, Jenny
dc.contributor.authorVult von Steyern, Fredrik
dc.contributor.authorØra, Ingrid
dc.contributor.authorDomanski, Henryk A.
dc.contributor.authorFioretos, Thoas
dc.contributor.authorNord, Karolin H.
dc.contributor.authorFletcher, Christopher D. M.
dc.date.accessioned2022-11-30T11:46:10Z
dc.date.available2022-11-30T11:46:10Z
dc.date.issued2014
dc.description.abstractPseudomyogenic 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.en_US
dc.identifier.citationWalther, 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.4322en_US
dc.identifier.other10.1002/path.4322
dc.identifier.urihttps://nru.uncst.go.ug/handle/123456789/5548
dc.language.isoenen_US
dc.publisherThe Journal of Pathologyen_US
dc.subjectPseudomyogenic haemangioendotheliomaen_US
dc.subjectGene fusionen_US
dc.subjectSERPINE1en_US
dc.subjectFOSBen_US
dc.subjectRNA sequencingen_US
dc.subjectSarcomaen_US
dc.subjectPaediatricen_US
dc.titleA novel SERPINE1–FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendotheliomaen_US
dc.typeArticleen_US
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