Article
Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma.
Nature genetics - 1 Jul 2014
Wang Xiaoke, Bledsoe Krista L, Graham Rondell P, Asmann Yan W, Viswanatha David S, Lewis Jean E, Lewis Jason T, Chou Margaret M, Yaszemski Michael J, Jen Jin, Westendorf Jennifer J, Oliveira André M
Abstract excerpt
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,...
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