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mutation in a case of -mutant sinonasal glomangiopericytoma. | LitMetric

mutation in a case of -mutant sinonasal glomangiopericytoma.

Cold Spring Harb Mol Case Stud

Department of Neurosurgery, Division of Otolaryngology, Yale School of Medicine, New Haven, Connecticut 06510, USA.

Published: January 2022

AI Article Synopsis

Article Abstract

Glomangiopericytomas are rare, primary sinonasal tumors. The existing literature is mostly limited to reports describing the clinicopathologic characteristics of these tumors. Comprehensive genetic characterization of glomangiopericytomas remains lacking. Whole-exome sequencing of a case of glomangiopericytoma was performed under an institutional review board-approved protocol. A 69-yr-old female underwent surgical resection of a glomangiopericytoma. Whole-exome sequencing revealed somatic mutations in and , the former previously associated with this pathology but the latter not described. Concurrent dysregulation of Wnt/β-catenin and PI3K/AKT/mTOR signaling, secondary to mutations in these two oncogenes, may be amenable to targeted treatment with existing clinically approved drugs. Genomic characterization of glomangiopericytomas remains lacking. This study reports novel coexistence of and mutations in a case of glomangiopericytoma that may offer insight into the pathogenesis and potential for targeted medical therapies of this rare tumor.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744496PMC
http://dx.doi.org/10.1101/mcs.a006120DOI Listing

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