Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma

Xiaoke Wang, Krista L. Bledsoe, Rondell P. Graham, Yan W. Asmann, David S. Viswanatha, Jean E. Lewis, Jason T. Lewis, Margaret M. Chou, Michael J. Yaszemski, Jin Jen, Jennifer J. Westendorf, André M. Oliveira

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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.

Original languageEnglish (US)
Pages (from-to)666-668
Number of pages3
JournalNature Genetics
Volume46
Issue number7
DOIs
StatePublished - Jul 2014

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ASJC Scopus subject areas

  • Genetics

Cite this

Wang, X., Bledsoe, K. L., Graham, R. P., Asmann, Y. W., Viswanatha, D. S., Lewis, J. E., Lewis, J. T., Chou, M. M., Yaszemski, M. J., Jen, J., Westendorf, J. J., & Oliveira, A. M. (2014). Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma. Nature Genetics, 46(7), 666-668. https://doi.org/10.1038/ng.2989