Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma
Copyright policy )Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma
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.
- University of Rochester United States
- Children's Hospital of Philadelphia United States
- Mayo Clinic United States
Oncogene Proteins, Fusion, Molecular Sequence Data, Nose Neoplasms, Gene Expression Regulation, Developmental, Neuroectodermal Tumors, Nuclear Proteins, Muscle Development, Response Elements, Translocation, Genetic, DNA-Binding Proteins, Phenotype, Chromosomes, Human, Pair 2, Trans-Activators, Humans, Paired Box Transcription Factors, Chromosomes, Human, Pair 4, Gene Fusion, PAX3 Transcription Factor, Paranasal Sinus Neoplasms, Transcription Factors
Oncogene Proteins, Fusion, Molecular Sequence Data, Nose Neoplasms, Gene Expression Regulation, Developmental, Neuroectodermal Tumors, Nuclear Proteins, Muscle Development, Response Elements, Translocation, Genetic, DNA-Binding Proteins, Phenotype, Chromosomes, Human, Pair 2, Trans-Activators, Humans, Paired Box Transcription Factors, Chromosomes, Human, Pair 4, Gene Fusion, PAX3 Transcription Factor, Paranasal Sinus Neoplasms, Transcription Factors
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