PMID- 24374978
OWN - NLM
STAT- MEDLINE
DCOM- 20140502
LR  - 20140307
IS  - 1096-9896 (Electronic)
IS  - 0022-3417 (Linking)
VI  - 232
IP  - 5
DP  - 2014 Apr
TI  - A novel SERPINE1-FOSB fusion gene results in transcriptional up-regulation of 
      FOSB in pseudomyogenic haemangioendothelioma.
PG  - 534-40
LID - 10.1002/path.4322 [doi]
AB  - 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.
CI  - Copyright (c) 2013 Pathological Society of Great Britain and Ireland. Published by 
      John Wiley & Sons, Ltd.
FAU - Walther, Charles
AU  - Walther C
AD  - Department of Clinical Genetics, University and Regional Laboratories, Skane 
      University Hospital, Lund University, Sweden; Department of Pathology, University 
      and Regional Laboratories, Skane University Hospital, Lund, Sweden.
FAU - Tayebwa, Johnbosco
AU  - Tayebwa J
FAU - Lilljebjorn, Henrik
AU  - Lilljebjorn H
FAU - Magnusson, Linda
AU  - Magnusson L
FAU - Nilsson, Jenny
AU  - Nilsson J
FAU - von Steyern, Fredrik Vult
AU  - von Steyern FV
FAU - Ora, Ingrid
AU  - Ora I
FAU - Domanski, Henryk A
AU  - Domanski HA
FAU - Fioretos, Thoas
AU  - Fioretos T
FAU - Nord, Karolin H
AU  - Nord KH
FAU - Fletcher, Christopher D M
AU  - Fletcher CD
FAU - Mertens, Fredrik
AU  - Mertens F
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140129
PL  - England
TA  - J Pathol
JT  - The Journal of pathology
JID - 0204634
RN  - 0 (FOSB protein, human)
RN  - 0 (Plasminogen Activator Inhibitor 1)
RN  - 0 (Proto-Oncogene Proteins c-fos)
RN  - 0 (RNA, Messenger)
RN  - 0 (SERPINE1 protein, human)
SB  - IM
MH  - Adolescent
MH  - Bone Neoplasms/enzymology/*genetics/pathology
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 22
MH  - Chromosomes, Human, Pair 7
MH  - Female
MH  - *Gene Expression Regulation, Neoplastic
MH  - *Gene Fusion
MH  - Genetic Testing/methods
MH  - Hemangioendothelioma, Epithelioid/enzymology/*genetics/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Plasminogen Activator Inhibitor 1/*genetics
MH  - Predictive Value of Tests
MH  - Proto-Oncogene Proteins c-fos/*genetics
MH  - RNA, Messenger/analysis
MH  - Real-Time Polymerase Chain Reaction
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sequence Analysis, RNA
MH  - Soft Tissue Neoplasms/enzymology/*genetics/pathology
MH  - *Transcription, Genetic
MH  - Translocation, Genetic
MH  - Up-Regulation
OTO - NOTNLM
OT  - FOSB
OT  - RNA sequencing
OT  - SERPINE1
OT  - gene fusion
OT  - paediatric
OT  - pseudomyogenic haemangioendothelioma
OT  - sarcoma
EDAT- 2014/01/01 06:00
MHDA- 2014/05/03 06:00
CRDT- 2013/12/31 06:00
PHST- 2013/10/21 00:00 [received]
PHST- 2013/12/03 00:00 [revised]
PHST- 2013/12/20 00:00 [accepted]
PHST- 2013/12/31 06:00 [entrez]
PHST- 2014/01/01 06:00 [pubmed]
PHST- 2014/05/03 06:00 [medline]
AID - 10.1002/path.4322 [doi]
PST - ppublish
SO  - J Pathol. 2014 Apr;232(5):534-40. doi: 10.1002/path.4322. Epub 2014 Jan 29.