Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma  

Oleh:

Xiaoke, Wang ; Bledsoe, Krista L ; Graham, Rondell P ; Asmann, Yan W ; Viswanatha, David S

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Nature Genetics vol. 46 no. 07 (Jul. 2014), page 666–668.
Topik: PAX3-MAML3 fusion; biphenotypic sinonasal sarcoma

Ketersediaan

Perpustakaan FK Nomor Panggil: N12.K Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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.

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