Alternate PAX3-FOXO1 oncogenic fusion in biphenotypic sinonasal sarcoma.
作者： Waihay J. Wong , Alexandra Lauria , Jason L. Hornick , Sheng Xiao , Jonathan A. Fletcher
DOI: 10.1002/GCC.22295
关键词:
摘要: Biphenotypic sinonasal sarcoma (SNS) is a low grade spindle cell that affects middle-aged adults, in which the PAX3-MAML3 chimeric transcription factor induces an aberrant dual myogenic and neuroectodermal phenotype. We report alternate PAX3-FOXO1 oncogenic fusion SNS, confirming crucial role of PAX3 SNS oncogenesis. The presence alveolar rhabdomyosarcoma suggests these two entities are genetically similar lesions arising from distinct progenitor pools. This finding has important implications for molecular diagnosis rhabdomyosarcoma, underscores critical contribution origin to phenotype induced by reprogramming.
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