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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

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Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma.

Wang Xiaoke X Bledsoe Krista L KL Graham Rondell P RP Asmann Yan W YW Viswanatha David S DS Lewis Jean E JE Lewis Jason T JT Chou Margaret M MM Yaszemski Michael J MJ Jen Jin J Westendorf Jennifer J JJ Oliveira André M AM

Nature genetics 20140525 7

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. ...[more]

PMID: 24859338

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