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.

SUBMITTER: Wang X 

PROVIDER: S-EPMC4236026 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature