Key result
PAX3-FOXO1 fusion in biphenotypic sinonasal sarcoma suggests genetic similarity to alveolar rhabdomyosarcoma.
Why the study?
The molecular diagnosis of biphenotypic sinonasal sarcoma and alveolar rhabdomyosarcoma requires clarification due to their genetic similarities and distinct progenitor origins.
Case Report
The identification of PAX3-FOXO1 in biphenotypic sinonasal sarcoma has important implications for its molecular diagnosis and differentiation from alveolar rhabdomyosarcoma.
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.
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Wong et al. (2015) conducted a case report in Biphenotypic sinonasal sarcoma. PAX3-FOXO1 oncogenic fusion was evaluated on Presence of PAX3-FOXO1 oncogenic fusion. An alternate PAX3-FOXO1 oncogenic fusion was identified in biphenotypic sinonasal sarcoma, suggesting genetic similarity to alveolar rhabdomyosarcoma arising from distinct progenitor cells.
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