PIK3CA mutation in a case of CTNNB1-mutant sinonasal glomangiopericytoma

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 remain lacking. Whole exome sequencing of a case of glomangiopericytoma was performed under an institutional review board approved protocol. A 69 year-old female underwent surgical resection of a glomangiopericytoma. Whole exome sequencing revealed somatic mutations in CTNNB1 and PIK3CA, the former previously associated with this pathology but the latter not described. Concurrent dysregulation of Wnt/beta-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 co-existence of PIK3CA and CTNNB1 mutations in a case of glomangiopericytoma that may offer insight into the pathogenesis and potential for targeted medical therapies of this rare tumor.

CD34-Positive Spindle Cell Tumor With CTNNB1 Mutation: An Unusual Spindle Cell Variant of Sinonasal Glomangiopericytoma

“…Molecular testing for gene mutations in CTNNB1 and PIK3CA and gene fusions of PAX3::MAML3/NCOA1/FOXO1, NAB2::STAT6, and LMNA/TPM3/TPR::NTRK1 were performed using formalin-fixed, paraffin-embedded tumor tissue and the primers listed in Supplementary Table 1. Mutational analysis by Sanger sequencing detected a CTNNB1 S33A mutation (Figure 4); however, hot spot mutations in PIK3CA , which have been previously described in a case report of sinonasal glomangiopericytoma, 3 were negative. In addition, PAX3::MAML3 , PAX3::NCOA1, PAX3::FOXO1, NAB2::STAT6, LMNA::NTRK1, TPM3::NTRK1, and TPR::NTRK1 gene fusions investigated were not detected via reverse transcription-polymerase chain reaction.…”

A rare case of glomangiopericytoma in the nasal cavity: A case report in light of recent literature

“…There was only minimal mass effect, and no adjacent cerebral edema. Christopher S. Hong et al [ 26 ] CT/MRI CT: A hypodense, partially cystic mass in the right nasal cavity causing obstruction and opacification of the right posterior ethmoid air cells and sphenoid sinus, as well as bony remodeling of the ipsilateral cribriform plate and lateral lamella. MRI: Demonstrated a 3.3 × 1.2-cm enhancing soft tissue mass, protruding into the ipsilateral sphenoid sinus without definite intracranial extension.…”

International Consensus Statement on Allergy and Rhinology: Sinonasal Tumors

“…Surgical resection is the primary treatment for GPC 1024,1028,1033 . In one systematic review, clean surgical margins resulted in 100% 5‐year survival with no evidence of recurrence or metastasis (10/10) 1022 .…”