@article{66b9b7565ed641ed910ec4f484390942,
title = "Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma",
abstract = "Biphenotypic sinonasal sarcoma (SNS) is a newly described tumor of the nasal and paranasal areas. Here we report a recurrent chromosomal translocation in SNS, t(2;4)(q35;q31.1), resulting in a PAX3-MAML3 fusion protein that is a potent transcriptional activator of PAX3 response elements. The SNS phenotype is characterized by aberrant expression of genes involved in neuroectodermal and myogenic differentiation, closely simulating the developmental roles of PAX3.",
author = "Xiaoke Wang and Bledsoe, {Krista L.} and Graham, {Rondell P.} and Asmann, {Yan W.} and Viswanatha, {David S.} and Lewis, {Jean E.} and Lewis, {Jason T.} and Chou, {Margaret M.} and Yaszemski, {Michael J.} and Jin Jen and Westendorf, {Jennifer J.} and Oliveira, {Andr{\'e} M.}",
note = "Funding Information: The authors thank A. Maran, K.L. Shogren, S.L. Segovis, J.L. Herrick and X. Li for logistical support in the performance of several of these experiments. We also express gratitude to L. Jin, M.R. Erickson-Johnson, B.R. Evers, C.W. Roth, R.N. Wehrs, A.R. Seys and M.L. Lonzo for technical support in the Molecular Anatomic Pathology Laboratory and Cytogenetics Laboratory, to T.J. Flotte and L.A. Gross in the Pathology Resource Core Laboratory, to K.C. Halling and M.E. Brown for administration support, to T.L. Schmidt for secretarial assistance and to T.A. Bennett for editorial assistance. We also thank C.P. Kolbert and B.W. Eckloff at the Gene Expression Core and the Sequencing Core at the Mayo Medical Genome Facility for providing transcriptome sequencing and gene expression profiling services. This work was supported by Mayo Clinic DLMP 2012/13 Research Grants and by US National Institutes of Health grant T32 CA148073.",
year = "2014",
month = jul,
doi = "10.1038/ng.2989",
language = "English (US)",
volume = "46",
pages = "666--668",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "7",
}