Back to Search
Start Over
A novel SERPINE1-FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma.
- Source :
-
The Journal of pathology [J Pathol] 2014 Apr; Vol. 232 (5), pp. 534-40. Date of Electronic Publication: 2014 Jan 29. - Publication Year :
- 2014
-
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.<br /> (Copyright © 2013 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.)
- Subjects :
- Adolescent
Bone Neoplasms enzymology
Bone Neoplasms pathology
Chromosome Banding
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 7
Female
Genetic Testing methods
Hemangioendothelioma, Epithelioid enzymology
Hemangioendothelioma, Epithelioid pathology
Humans
In Situ Hybridization, Fluorescence
Male
Predictive Value of Tests
RNA, Messenger analysis
Real-Time Polymerase Chain Reaction
Reverse Transcriptase Polymerase Chain Reaction
Sequence Analysis, RNA
Soft Tissue Neoplasms enzymology
Soft Tissue Neoplasms pathology
Translocation, Genetic
Up-Regulation
Bone Neoplasms genetics
Gene Expression Regulation, Neoplastic
Gene Fusion
Hemangioendothelioma, Epithelioid genetics
Plasminogen Activator Inhibitor 1 genetics
Proto-Oncogene Proteins c-fos genetics
Soft Tissue Neoplasms genetics
Transcription, Genetic
Subjects
Details
- Language :
- English
- ISSN :
- 1096-9896
- Volume :
- 232
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- The Journal of pathology
- Publication Type :
- Academic Journal
- Accession number :
- 24374978
- Full Text :
- https://doi.org/10.1002/path.4322