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 language | English (US) |
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Pages (from-to) | 666-668 |
Number of pages | 3 |
Journal | Nature Genetics |
Volume | 46 |
Issue number | 7 |
DOIs | |
State | Published - 2014 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics