Glomangiopericytoma of the Nasal Cavity with CTNNB1 p.S37C Mutation: A Case Report and Literature Review

Abstract

Glomangiopericytoma (GPC) is a rare mesenchymal tumor arising from the nasal cavity or paranasal sinuses. GPC was categorized as a borderline and low-malignant-potential tumor by the World Health Organization in 2005 and accounts for less than 0.5% of all sinonasal tumors. We report a case of GPC in a 74-year-old woman with a history of recurrent epistaxis and nasal obstruction. A reddish tumor was seen in the right nasal cavity. Enhanced computed tomography showed a mass lesion occupying the right nasal cavity. The tumor, which originated from the nasal septum in the olfactory fissure area, was resected with 5-mm mucosal margins by endoscopic sinus surgery. Histologic examination revealed a uniform proliferation of oval-to-short spindle-shaped cells beneath the epithelium. Immunohistologic analysis demonstrated the tumor cells were positive for α-smooth muscle actin, β-catenin and Vimentin, and negative for AE1/AE3, Bcl-2, CD34, CD117, Factor VIIIR Ag, S-100 protein, or STAT6. The percentage of Ki-67-positive cells was approximately 5%. Genetic analysis using next-generation sequencing revealed a missense mutation in the CTNNB1 gene (c.110C > G, p.S37C). While other CTNNB1 mutations have been described in GPC; this is the first report of this specific mutation. The mutation was confirmed using Sanger sequencing.

PIK3CA mutation in a case of CTNNB1-mutant sinonasal glomangiopericytoma

“…Clinicopathologically, the presence of the PIK3CA mutation in our patient's tumor did not differentiate it significantly from other CTNNB1-mutated glomangiopericytomas in regards to measures, such as tumor size and Ki-67 index. (Haller et al 2015;Kono et al 2019) As such, preclinical study of co-existing PIK3CA and CTNNB1 mutated cancer models are needed to predict relevance for disease prognosis and management.…”

“…However, further comprehensive genomic study of glomangiopericytoma remains lacking to guide diagnostic criteria and development of targeted therapies.CTNNB1 mutations were originally associated with the pathogenesis of glomangiopericytomas by Haller et al(Haller et al 2015) The authors performed WES in six patient samples and demonstrated recurrent hotspot CTNNB1 mutations in all cases, while notably lacking the NAB2-STAT6 fusion, characteristic of solitary fibrous tumors. Subsequently, several reports confirmed the prevalence of CTNNB1 mutations in glomangiopericytoma and their association with positive staining for beta-catenin on immunohistochemistry (Lasota et al 2015;Anzai et al 2018;Kono et al 2019;Obeidin et al 2019). As such, beta-catenin staining is now routinely used to clinically diagnose glomangiopericytomas and differentiate them from other soft tissue tumors of the sinonasal tract.…”

Sinonasal haemangiopericytoma- An unusual swelling in the nasal cavity

“…15 Major differential diagnosis of Hemangiopericytoma are lobular capillary hemangiomas, solitary fibrous tumours, leiomyomas, nasopharyngeal angiofibromas and glomus tumour. [16][17][18] Lobular capillary hemangioma (LCH) also called as pyogenic granuloma is a benign soft tissue tumour. Nasal septum is the common location of LCH involving the aerodigestive tract in 1/3 rd of cases.…”

CTNNB1 S37C mutation causing cells proliferation and migration coupled with molecular mechanisms in lung adenocarcinoma

“…Previous studies indicate that β-catenin-TCF/LEF interaction in cytoplasm can promote the transcription of downstream target genes and causes abnormal proliferation and differentiation of cells, thus promoting the occurrence of cancer (17,18). Actually, the site mutation of CTNNB1 always associate with the changes of CTNNB1 biological function in various humane diseases (19)(20)(21). A previous study shows that the CTNNB1 mutations trigger the high expression of Wnt signaling pathway, which further contribute to the development of LUAD (22).…”