학술논문
Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma
Document Type
Report
Author
Source
Nature Genetics. July 1, 2014, Vol. 46 Issue 7, p666, 5 p.
Subject
Language
English
ISSN
1061-4036
Abstract
Biphenotypic sinonasal sarcoma or low-grade sinonasal sarcoma with neural and myogenic features (SNS) is a recently described tumor that preferentially occurs in the sinonasal area of middle-aged individuals, more often [...]
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.
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.