Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma.

Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma.
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DOI:
10.1038/ng.2989
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发表时间:
2014-07
期刊:
影响因子:
30.8
通讯作者:
Oliveira, Andre M.
Oliveira, Andre M.
中科院分区:
生物学1区
文献类型:
--
作者:
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, Andre M.

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双表型鼻窦肉瘤是一种新发现的鼻腔及鼻窦肿瘤。在此,我们报告新的复发性染色体易位t(2;4)(q35;q31.1)在SNS。该易位导致融合蛋白PAX 3-MAML 3的形成,其是PAX 3应答元件的有效转录激活因子。SNS表型的特征在于参与神经外胚层和肌源性分化的基因的异常表达,其密切模拟PAX 3的发育作用。
Biphenotypic sinonasal sarcoma (SNS) is a newly described tumor of the nasal and paranasal areas. Herein, we report the novel recurring chromosomal translocation t(2;4)(q35;q31.1) in SNS. The translocation results in the formation of the fusion protein PAX3-MAML3, which 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, which closely simulates the developmental roles of PAX3.
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