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A Benign Vascular Tumor With a New Fusion Gene: EWSR1-NFATC1 in Hemangioma of the Bone.

Arbajian, Elsa LU ; Magnusson, Linda LU ; Brosjö, Otte ; Wejde, Johan ; Folpe, Andrew L ; Hansén Nord, Karolin LU and Mertens, Fredrik LU (2013) In American Journal of Surgical Pathology 37(4). p.613-616
Abstract
The EWSR1 gene in chromosome band 22q12 is a promiscuous fusion partner involved in a vast array of tumors characterized by gene fusions. In this study, we report the finding of a new fusion gene, EWSR1-NFATC1, in a hemangioma of the bone; genetic rearrangements have not previously been described in this tumor type. Chromosome banding analysis showed a t(18;22)(q23;q12) translocation as the sole change. Fluorescence in situ hybridization mapping suggested the involvement of each of the 2 partner genes, and reverse transcriptase polymerase chain reaction revealed an in-frame EWSR1-NFATC1 transcript. NFATC1 has not previously been shown to be involved in a fusion chimera. However, NFATC2, encoding another member of the same protein family,... (More)
The EWSR1 gene in chromosome band 22q12 is a promiscuous fusion partner involved in a vast array of tumors characterized by gene fusions. In this study, we report the finding of a new fusion gene, EWSR1-NFATC1, in a hemangioma of the bone; genetic rearrangements have not previously been described in this tumor type. Chromosome banding analysis showed a t(18;22)(q23;q12) translocation as the sole change. Fluorescence in situ hybridization mapping suggested the involvement of each of the 2 partner genes, and reverse transcriptase polymerase chain reaction revealed an in-frame EWSR1-NFATC1 transcript. NFATC1 has not previously been shown to be involved in a fusion chimera. However, NFATC2, encoding another member of the same protein family, is known to be a fusion partner for EWSR1 in a subgroup of Ewing sarcoma. Thus, our findings further broaden the spectrum of neoplasms associated with EWSR1 fusion genes, add a new partner to the growing list of EWSR1 chimeras, and suggest that chromosomal rearrangements of pathogenetic, and possibly also diagnostic, significance can be present in benign vascular bone tumors. (Less)
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organization
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type
Contribution to journal
publication status
published
subject
in
American Journal of Surgical Pathology
volume
37
issue
4
pages
613 - 616
publisher
Lippincott Williams & Wilkins
external identifiers
  • wos:000316184000018
  • pmid:23480895
  • scopus:84875127366
  • pmid:23480895
ISSN
1532-0979
DOI
10.1097/PAS.0b013e31827ae13b
language
English
LU publication?
yes
id
8538ea10-ce90-4804-94e5-295c696a57eb (old id 3628270)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/23480895?dopt=Abstract
date added to LUP
2016-04-01 10:54:07
date last changed
2022-04-04 22:25:00
@article{8538ea10-ce90-4804-94e5-295c696a57eb,
  abstract     = {{The EWSR1 gene in chromosome band 22q12 is a promiscuous fusion partner involved in a vast array of tumors characterized by gene fusions. In this study, we report the finding of a new fusion gene, EWSR1-NFATC1, in a hemangioma of the bone; genetic rearrangements have not previously been described in this tumor type. Chromosome banding analysis showed a t(18;22)(q23;q12) translocation as the sole change. Fluorescence in situ hybridization mapping suggested the involvement of each of the 2 partner genes, and reverse transcriptase polymerase chain reaction revealed an in-frame EWSR1-NFATC1 transcript. NFATC1 has not previously been shown to be involved in a fusion chimera. However, NFATC2, encoding another member of the same protein family, is known to be a fusion partner for EWSR1 in a subgroup of Ewing sarcoma. Thus, our findings further broaden the spectrum of neoplasms associated with EWSR1 fusion genes, add a new partner to the growing list of EWSR1 chimeras, and suggest that chromosomal rearrangements of pathogenetic, and possibly also diagnostic, significance can be present in benign vascular bone tumors.}},
  author       = {{Arbajian, Elsa and Magnusson, Linda and Brosjö, Otte and Wejde, Johan and Folpe, Andrew L and Hansén Nord, Karolin and Mertens, Fredrik}},
  issn         = {{1532-0979}},
  language     = {{eng}},
  number       = {{4}},
  pages        = {{613--616}},
  publisher    = {{Lippincott Williams & Wilkins}},
  series       = {{American Journal of Surgical Pathology}},
  title        = {{A Benign Vascular Tumor With a New Fusion Gene: EWSR1-NFATC1 in Hemangioma of the Bone.}},
  url          = {{http://dx.doi.org/10.1097/PAS.0b013e31827ae13b}},
  doi          = {{10.1097/PAS.0b013e31827ae13b}},
  volume       = {{37}},
  year         = {{2013}},
}