The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing
Open accessAbstract
A 44-year old woman with recurrent solitary fibrous tumor (SFT)/hemangiopericytoma was enrolled in a clinical sequencing program including whole-exome and transcriptome sequencing. A gene fusion of the transcriptional repressor NAB2 with the transcriptional activator STAT6 was detected. Transcriptome sequencing of 27 additional SFTs identified the presence of a NAB2-STAT6 gene fusion in all tumors. Using RT-PCR and sequencing, we detected this fusion in all 51 SFTs, indicating high levels of recurrence. Expression of NAB2-STAT6 fusion proteins was confirmed in SFT, and the predicted fusion products harbor the early growth response (EGR)-binding domain of NAB2 fused to the activation domain of STAT6. Overexpression of the NAB2-STAT6 gene fusion induced proliferation in cultured cells and activated the expression of EGR-responsive genes. These studies establish NAB2-STAT6 as the defining driver mutation of SFT and provide an example of how neoplasia can be initiated by converting a transcriptional repressor of mitogenic pathways into a transcriptional activator.
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Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0506580102 · Cited by 53,625
GREAT improves functional interpretation of cis-regulatory regions
McLean, C. Y., Bristor, D., Hiller, M., Clarke, S. L., Schaar, B. T., Lowe, C. B., Wenger, A. M., & Bejerano, G. (2010) · Nature Biotechnology · doi:10.1038/nbt.1630 · Cited by 4,502
The mutational landscape of lethal castration-resistant prostate cancer
Grasso, C. S., Wu, Y.-M., Robinson, D. R., Cao, X., Dhanasekaran, S. M., Khan, A. P., Quist, M. J., Jing, X., Lonigro, R. J., Brenner, J. C., et al. (2012) · Nature · doi:10.1038/nature11125 · Cited by 2,517
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Cited by
Mechanisms and consequences of Jak–STAT signaling in the immune system
Villarino, A. V., Kanno, Y., & O'Shea, J. J. (2017) · Nature Immunology · doi:10.1038/ni.3691 · Cited by 1,221
Karpathiou, G., Papoudou-Bai, A., Ferrand, E., Dumollard, J. M., & Peoc’h, M. (2021) · Pathology - Research and Practice · doi:10.1016/j.prp.2021.153477 · Cited by 116
Metadata
- Authors
- Robinson, D. R., Wu, Y.-M., Kalyana-Sundaram, S., Cao, X., Lonigro, R. J., Sung, Y.-S., Chen, C.-L., Zhang, L., Wang, R., Su, F., Iyer, M. K., Roychowdhury, S., Siddiqui, J., Pienta, K. J., Kunju, L. P., Talpaz, M., Mosquera, J. M., Singer, S., Schuetze, S. M., Antonescu, C. R., & Chinnaiyan, A. M.
- Venue
- Nature Genetics
- Published
- 2013-01-13
- Volume
- 45
- Issue
- 2
- Pages
- 180-185
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1995826067
- Cited by
- 837
- References
- 3
- FWCI
- 46.51
- Type
- journal article
- Language
- en
- Open access
- green
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- Robinson, D. R., Wu, Y.-M., Kalyana-Sundaram, S., Cao, X., Lonigro, R. J., Sung, Y.-S., Chen, C.-L., Zhang, L., Wang, R., Su, F., Iyer, M. K., Roychowdhury, S., Siddiqui, J., Pienta, K. J., Kunju, L. P., Talpaz, M., Mosquera, J. M., Singer, S., Schuetze, S. M., . . . Chinnaiyan, A. M. (2013). Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing. Nature Genetics. https://doi.org/10.1038/ng.2509
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