Dataset Information

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 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 CTNNB1 and PIK3CA, 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 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.

SUBMITTER: Hong CS

PROVIDER: S-EPMC8744496 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature

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Publications

<i>PIK3CA</i> mutation in a case of <i>CTNNB1</i>-mutant sinonasal glomangiopericytoma.

Hong Christopher S CS Khan Mohammad M Sukys Jordan M JM Prasad Manju M Erson-Omay E Zeynep EZ Vining Eugenia M EM Omay Sacit Bulent SB

Cold Spring Harbor molecular case studies 20220110 1

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 mutat ...[more]

PMID: 34667073

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Project description:The Wnt/β-catenin pathway is known to be frequently dysregulated in various human malignancies. Alterations in the genes encoding the components of Wnt/β-catenin pathway have also been described in lung adenocarcinoma. Notably however, the clinical impacts of Wnt/β-catenin pathway alterations in lung adenocarcinoma have not been fully evaluated to date. We here investigated the prognostic implications of single gene variations in 174 cases of surgically resected lung adenocarcinoma tested using targeted next-generation sequencing. Screening of the prognostic impact of single gene alterations identified an association between CTNNB1 mutation and poor recurrence-free survival in EGFR-mutant LUADs. Based on these results, the entire cohort was stratified into three groups in accordance with the mutational status of Wnt/β-catenin pathway genes (i.e. oncogenic CTNNB1 mutation [CTNNB1-ONC], other Wnt/β-catenin pathway gene mutations [Wnt/β-catenin-OTHER], and wild type for Wnt/β-catenin pathway genes [Wnt/β-catenin-WT]). The clinicopathologic characteristics and survival outcomes of these groups were then compared. Oncogenic CTNNB1 and other Wnt/β-catenin pathway gene mutations were identified in 10 (5.7%) and 14 cases (8.0%), respectively. The CTNNB1-ONC group cases displayed histopathologic features of conventional non-mucinous adenocarcinoma with no significant differences from those of the other groups. Using β-catenin immunohistochemistry, we found that the CTNNB1-ONC group displayed aberrant nuclear staining more frequently, but only in 60% of the samples. The LUADs harboring a CTNNB1-ONC exhibited significantly poorer RFS outcomes than the other groups, regardless of the β-catenin IHC status. This was a pronounced finding in the EGFR-mutant LUADs only in subgroup analysis, which was then confirmed by multivariate analysis. Nevertheless, no significant OS differences between these Wnt/β-catenin groups were evident. Hence, oncogenic CTNNB1 mutations may be found in about 6% of lung adenocarcinomas and may predict post-operative recurrence in EGFR-mutant LUADs. Aberrant nuclear β-catenin staining on IHC appears to be insufficient as a surrogate marker of an oncogenic CTNNB1 mutation.

Dataset Information

PIK3CA mutation in a case of CTNNB1-mutant sinonasal glomangiopericytoma.

Publications

<i>PIK3CA</i> mutation in a case of <i>CTNNB1</i>-mutant sinonasal glomangiopericytoma.

Similar Datasets

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