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

Research output: Contribution to journalArticlepeer-review

77 Scopus citations


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
Issue number7
StatePublished - 2014
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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