Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma

Xiaoke Wang; Krista L. Bledsoe; Rondell P. Graham; Yan W. Asmann; David S. Viswanatha; Jean E. Lewis; Jason T. Lewis; Margaret M. Chou; Michael J. Yaszemski; Jin Jen; Jennifer J. Westendorf; André M. Oliveira

doi:10.1038/ng.2989

Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma

Xiaoke Wang
, Krista L. Bledsoe
, Rondell P. Graham
, Yan W. Asmann
, David S. Viswanatha
, Jean E. Lewis
, Jason T. Lewis
, Margaret M. Chou
, Michael J. Yaszemski
, Jin Jen
, Jennifer J. Westendorf
, André M. Oliveira

Research output: Contribution to journal › Article › peer-review

77 Scopus citations

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.

Original language	English (US)
Pages (from-to)	666-668
Number of pages	3
Journal	Nature Genetics
Volume	46
Issue number	7
DOIs	https://doi.org/10.1038/ng.2989
State	Published - 2014
Externally published	Yes

ASJC Scopus subject areas

Genetics

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10.1038/ng.2989

Cite this

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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.",

author = "Xiaoke Wang and Bledsoe, \{Krista L.\} and Graham, \{Rondell P.\} and Asmann, \{Yan W.\} and Viswanatha, \{David S.\} and Lewis, \{Jean E.\} and Lewis, \{Jason T.\} and Chou, \{Margaret M.\} and Yaszemski, \{Michael J.\} and Jin Jen and Westendorf, \{Jennifer J.\} and Oliveira, \{Andr{\'e} M.\}",

year = "2014",

doi = "10.1038/ng.2989",

language = "English (US)",

volume = "46",

pages = "666--668",

journal = "Nature Genetics",

issn = "1061-4036",

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TY - JOUR

T1 - Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma

AU - Wang, Xiaoke

AU - Bledsoe, Krista L.

AU - Graham, Rondell P.

AU - Asmann, Yan W.

AU - Viswanatha, David S.

AU - Lewis, Jean E.

AU - Lewis, Jason T.

AU - Chou, Margaret M.

AU - Yaszemski, Michael J.

AU - Jen, Jin

AU - Westendorf, Jennifer J.

AU - Oliveira, André M.

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/84903640209

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AN - SCOPUS:84903640209

SN - 1061-4036

VL - 46

SP - 666

EP - 668

JO - Nature Genetics

JF - Nature Genetics

IS - 7

ER -

Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma

Abstract

ASJC Scopus subject areas

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