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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Chromosomes, Human, Pair 2 / genetics
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Chromosomes, Human, Pair 4 / genetics
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DNA-Binding Proteins / genetics*
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Gene Expression Regulation, Developmental*
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Gene Fusion / genetics*
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Humans
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Molecular Sequence Data
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Muscle Development / genetics
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Neuroectodermal Tumors / genetics
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Neuroectodermal Tumors / pathology
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Nose Neoplasms / genetics*
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Nose Neoplasms / pathology
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Nuclear Proteins / genetics*
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Oncogene Proteins, Fusion / genetics*
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PAX3 Transcription Factor
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Paired Box Transcription Factors / genetics*
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Paranasal Sinus Neoplasms / genetics*
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Paranasal Sinus Neoplasms / pathology
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Phenotype
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Response Elements / genetics
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Trans-Activators
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Transcription Factors / genetics*
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Translocation, Genetic / genetics
Substances
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DNA-Binding Proteins
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MAML3 protein, human
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Nuclear Proteins
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Oncogene Proteins, Fusion
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PAX3 Transcription Factor
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PAX3 protein, human
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Paired Box Transcription Factors
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Trans-Activators
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Transcription Factors
Associated data
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GENBANK/KF727276
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GENBANK/KF727277
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GEO/GSE52323