Biphenotypic sinonasal sarcoma with PAX3::MAML3 fusion transforming into high-grade rhabdomyosarcoma: report of an emerging rare phenomenon

We report a case of a 67-year-old male patient with a sinonasal tumor that showed areas of classic biphenotypic sinonasal sarcoma (BSNS) which in some sections sharply transitioned into high-grade rhabdomyosarcoma. Immunohistochemically, the conventional BSNS parts showed S100 protein, SMA, PAX7, and focal MyoD1 expression, whereas desmin and myogenin were negative. In contrast, the cells in high-grade areas expressed desmin, MyoD1, myogenin, and PAX7, while being negative for S100 protein and SMA. Using the Archer FusionPlex assay, the classical PAX3::MAML3 gene fusion was detected. FISH for PAX3 and MAML3 confirmed a break of these genes in both components. Despite aggressive therapy, the tumor progression resulted in the patient's death. The herein presented case, together with 2 previously published cases of BSNS with high-grade transformation, helps to better understand this novel phenomenon. Although the risk for such transformation appears low, it has important clinical and diagnostic implications which are discussed.

Automated summary

We present a case of a 67-year-old male patient with a sinonasal tumor that displayed classic biphenotypic sinonasal sarcoma (BSNS) and high-grade rhabdomyosarcoma. Immunohistochemistry showed different expression patterns in these two components. Molecular analysis confirmed the presence of the PAX3::MAML3 gene fusion. Despite aggressive treatment, the tumor progression led to the patient's death. This case, along with previous reports, contributes to the understanding of this rare phenomenon and its clinical implications.