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Alternate PAX 3 ‐ FOXO 1 oncogenic fusion in biphenotypic sinonasal sarcoma
Author(s) -
Wong Waihay J.,
Lauria Alexandra,
Hornick Jason L.,
Xiao Sheng,
Fletcher Jonathan A.,
MarinoEnriquez Adrian
Publication year - 2016
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.22295
Subject(s) - pax3 , alveolar rhabdomyosarcoma , transcription factor , cancer research , oncogene proteins , carcinogenesis , phenotype , biology , reprogramming , fusion gene , sarcoma , rhabdomyosarcoma , cell , cancer , pathology , medicine , gene , genetics , regulation of gene expression
Biphenotypic sinonasal sarcoma (SNS) is a low grade spindle cell sarcoma that affects middle‐aged adults, in which the PAX3‐MAML3 chimeric transcription factor induces an aberrant dual myogenic and neuroectodermal phenotype. We report an alternate PAX3‐FOXO1 oncogenic fusion in SNS, confirming the crucial role of PAX3 in SNS oncogenesis. The presence of PAX3‐FOXO1 in SNS and alveolar rhabdomyosarcoma suggests that these two entities are genetically similar lesions arising from distinct progenitor cell pools. This finding has important implications for the molecular diagnosis of SNS and alveolar rhabdomyosarcoma, and underscores the critical contribution of the cell of origin to the phenotype induced by oncogenic transcription factor reprogramming. © 2015 Wiley Periodicals, Inc.