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PMID: 24859338 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma.

Nature genetics ·Vol. 46 ·No. 7 ·2014-07-00 ·Pages 666-8

Wang X, Bledsoe KL, Graham RP, Asmann YW, Viswanatha DS, Lewis JE, Lewis JT, Chou MM, Yaszemski MJ, Jen J, Westendorf JJ, Oliveira AM

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.

MeSH Terms
Chromosomes, Human, Pair 2/genetics Chromosomes, Human, Pair 4/genetics DNA-Binding Proteins/genetics Gene Expression Regulation, Developmental Gene Fusion/genetics Humans Molecular Sequence Data Muscle Development/genetics Neuroectodermal Tumors/genetics,pathology Nose Neoplasms/genetics,pathology Nuclear Proteins/genetics Oncogene Proteins, Fusion/genetics PAX3 Transcription Factor Paired Box Transcription Factors/genetics Paranasal Sinus Neoplasms/genetics,pathology Phenotype Response Elements/genetics Trans-Activators Transcription Factors/genetics Translocation, Genetic/genetics
Chemicals
DNA-Binding Proteins MAML3 protein, human Nuclear Proteins Oncogene Proteins, Fusion PAX3 Transcription Factor PAX3 protein, human Paired Box Transcription Factors Trans-Activators Transcription Factors
Authors & Affiliations
12 authors, click to expand affiliations / ORCID
Wang Xiaoke
1] Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA. [2].
Bledsoe Krista L
1] Department of Biochemistry and Molecular Biology, Mayo Graduate School, Rochester, Minnesota, USA. [2].
Graham Rondell P
1] Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA. [2].
Asmann Yan W
Department of Health Sciences Research, Mayo Clinic, Jacksonville, Florida, USA.
Viswanatha David S
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Lewis Jean E
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Lewis Jason T
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Chou Margaret M
Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and the Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Yaszemski Michael J
Department of Orthopedic Surgery, Mayo Clinic, Rochester, Minnesota, USA.
Jen Jin
Medical Genome Facility, Center of Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Westendorf Jennifer J
Department of Orthopedic Surgery, Mayo Clinic, Rochester, Minnesota, USA.
Oliveira André M
1] Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA. [2] Department of Orthopedic Surgery, Mayo Clinic, Rochester, Minnesota, USA.
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Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1546-1718
DOI
10.1038/ng.2989
Published
2014-07-00
Epub
2014-00-25
Pages
666-8
Language
English
Region
United States
NLM ID
9216904
PMCID
PMC4236026
Subset
IM
Grants
NCI NIH HHS · P30 CA015083 · United States
NCI NIH HHS · T32 CA148073 · United States
Databases
GENBANK
KF727276, KF727277
GEO
GSE52323
External Links
PubMed source DOI: 10.1038/ng.2989 PMC Full Text View journal details
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