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Next-Generation Sequencing In The Diagnosis Of Rare Pediatric Sinonasal Tumors., Atif A. Ahmed, Divya Vundamati, Midhat Farooqi, Elena Repnikova, Timothy Zinkus, Maxine Hetherington, Lorien Paulson
Next-Generation Sequencing In The Diagnosis Of Rare Pediatric Sinonasal Tumors., Atif A. Ahmed, Divya Vundamati, Midhat Farooqi, Elena Repnikova, Timothy Zinkus, Maxine Hetherington, Lorien Paulson
Manuscripts, Articles, Book Chapters and Other Papers
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