title: Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma.
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.
authors.affiliation: 1] Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA. [2].
authors.forename: Xiaoke
authors.initials: X
authors.lastname: Wang
authors.affiliation: 1] Department of Biochemistry and Molecular Biology, Mayo Graduate School, Rochester, Minnesota, USA. [2].
authors.forename: Krista L
authors.initials: KL
authors.lastname: Bledsoe
authors.affiliation: 1] Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA. [2].
authors.forename: Rondell P
authors.initials: RP
authors.lastname: Graham
authors.affiliation: Department of Health Sciences Research, Mayo Clinic, Jacksonville, Florida, USA.
authors.forename: Yan W
authors.initials: YW
authors.lastname: Asmann
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: David S
authors.initials: DS
authors.lastname: Viswanatha
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Jean E
authors.initials: JE
authors.lastname: Lewis
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Jason T
authors.initials: JT
authors.lastname: Lewis
authors.affiliation: Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and the Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
authors.forename: Margaret M
authors.initials: MM
authors.lastname: Chou
authors.affiliation: Department of Orthopedic Surgery, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Yaszemski
authors.affiliation: Medical Genome Facility, Center of Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Jin
authors.initials: J
authors.lastname: Jen
authors.affiliation: Department of Orthopedic Surgery, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Jennifer J
authors.initials: JJ
authors.lastname: Westendorf
authors.affiliation: 1] Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA. [2] Department of Orthopedic Surgery, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: André M
authors.initials: AM
authors.lastname: Oliveira
mesh_terms: D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental; D050939:Gene Fusion / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D024510:Muscle Development / Q000235:genetics; D017599:Neuroectodermal Tumors / Q000235:genetics / Q000473:pathology; D009669:Nose Neoplasms / Q000235:genetics* / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010255:Paranasal Sinus Neoplasms / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D020218:Response Elements / Q000235:genetics; D015534:Trans-Activators; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; C471298:MAML3 protein, human; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D015534:Trans-Activators; D014157:Transcription Factors