Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma
A partir de 26 échantillons tumoraux prélevés sur des patients atteints d'un sarcome biphénotypique des sinus ou des cavités annexes des fosses nasales, cette étude identifie la présence fréquente d'une fusion des gènes PAX3 et MAML3
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.
Nature Genetics 2014