The diagnosis of desmoid fibromatosis or other spindle cell tumors in the sinonasal region is very rare in children and needs to be thoroughly confirmed with immunohistochemical and/or molecular tests. We report 2 patients with such rare tumors and describe the use of next-generation sequencing in their evaluation. A 3-year-old female had a 4.4-cm midline nasal cavity mass involving the bony septum and extending into the base of the skull bilaterally. The moderate cellular fibroblastic proliferation revealed areas of thick keloid-like collagen bands and other areas with myxoid edematous stroma. Deep targeted sequencing identified a novel G34V mutation in the
Ear, nose, & throat journal
fibromatosis; immunohistochemistry; next-generation sequencing; sinonasal; spindle cell
Ahmed AA, Vundamati D, Farooqi M, et al. Next-Generation Sequencing in the Diagnosis of Rare Pediatric Sinonasal Tumors. Ear Nose Throat J. 2021;100(5):NP263-NP268. doi:10.1177/0145561319863371
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Publisher's Link: https://doi.org/10.1177%2F0145561319863371