A Benign Vascular Tumor With a New Fusion Gene: EWSR1-NFATC1 in Hemangioma of the Bone.
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/3628270
- author
- Arbajian, Elsa LU ; Magnusson, Linda LU ; Brosjö, Otte ; Wejde, Johan ; Folpe, Andrew L ; Hansén Nord, Karolin LU and Mertens, Fredrik LU
- organization
- publishing date
- 2013
- 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}}, }