期刊
NATURE GENETICS
卷 46, 期 7, 页码 666-668出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2989
关键词
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资金
- US National Institutes of Health [T32 CA148073]
- Mayo Clinic DLMP [2012/13]
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.
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