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

  • Charles Walther
  • Johnbosco Tayebwa
  • Henrik Lilljebjörn
  • Linda Magnusson
  • Jenny Nilsson
  • Fredrik Vult von Steyern
  • Ingrid Øra
  • Henryk Domanski
  • Thoas Fioretos
  • Karolin Hansén Nord
  • Christopher Dm Fletcher
  • Fredrik Mertens
Publishing year: 2014
Language: English
Pages: 534-540
Publication/Series: Journal of Pathology
Volume: 232
Issue: 5
Document type: Journal article
Publisher: John Wiley & Sons

Abstract english

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 real-time 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. Published by John Wiley & Sons, Ltd.


  • Medical Genetics
  • Cancer and Oncology


  • The genetics of soft tissue tumors
  • ISSN: 0022-3417
Thoas Fioretos
E-mail: thoas.fioretos [at]

Principal investigator

Division of Clinical Genetics

+46 46 222 45 95

+46 70 334 33 67