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

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