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

Walther, Charles LU ; Tayebwa, Johnbosco LU ; Lilljebjörn, Henrik LU orcid ; Magnusson, Linda LU ; Nilsson, Jenny LU ; Vult von Steyern, Fredrik LU ; Øra, Ingrid LU orcid ; Domanski, Henryk LU ; Fioretos, Thoas LU and Hansén Nord, Karolin LU , et al. (2014) In Journal of Pathology 232(5). p.534-540
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 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.... (More)
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. www.pathsoc.org.uk. (Less)
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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of Pathology
volume
232
issue
5
pages
534 - 540
publisher
John Wiley & Sons Inc.
external identifiers
  • pmid:24374978
  • wos:000332318000008
  • scopus:84895928246
  • pmid:24374978
ISSN
0022-3417
DOI
10.1002/path.4322
language
English
LU publication?
yes
additional info
The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000), Paediatrics (Lund) (013002000), Department of Orthopaedics (Lund) (013028000), Division of Clinical Genetics (013022003)
id
f0a3f8cf-1692-4a75-9afd-63b7cdd6e6be (old id 4292377)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/24374978?dopt=Abstract
date added to LUP
2016-04-01 10:11:50
date last changed
2024-11-18 03:27:17
@article{f0a3f8cf-1692-4a75-9afd-63b7cdd6e6be,
  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 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. www.pathsoc.org.uk.}},
  author       = {{Walther, Charles and Tayebwa, Johnbosco and Lilljebjörn, Henrik and Magnusson, Linda and Nilsson, Jenny and Vult von Steyern, Fredrik and Øra, Ingrid and Domanski, Henryk and Fioretos, Thoas and Hansén Nord, Karolin and Fletcher, Christopher Dm and Mertens, Fredrik}},
  issn         = {{0022-3417}},
  language     = {{eng}},
  number       = {{5}},
  pages        = {{534--540}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{Journal of Pathology}},
  title        = {{A novel SERPINE1-FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma.}},
  url          = {{http://dx.doi.org/10.1002/path.4322}},
  doi          = {{10.1002/path.4322}},
  volume       = {{232}},
  year         = {{2014}},
}