Document Type
Article
Publication Date
9-24-2019
Identifier
DOI: 10.1177/0145561319863371
Abstract
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
Journal Title
Ear, nose, & throat journal
Volume
Online ahead of print
Keywords
fibromatosis; immunohistochemistry; next-generation sequencing; sinonasal; spindle cell
Recommended Citation
Ahmed, A. A., Vundamati, D., Farooqi, M., Repnikova, E., Zinkus, T., Hetherington, M., Paulson, L. Next-Generation Sequencing in the Diagnosis of Rare Pediatric Sinonasal Tumors. Ear, nose, & throat journal Online ahead of print, (2019).