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

Michihisa Kono,Nobuyuki Bandoh,Yasuaki Harabuchi,Takashi Goto,Toshiaki Akahane,Tomomi Yamaguchi,Yasutaka Kato,Hiroshi Nishihara,Ryosuke Matsuoka,Hiroshi Nakano

doi:10.1007/s12105-018-0961-z

Michihisa Kono, Nobuyuki Bandoh + Show 8 more

Open Access

https://doi.org/10.1007/s12105-018-0961-z

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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.

Highlights

Glomangiopericytoma (GPC), called sinonasal-type hemangiopericytoma, is a rare mesenchymal tumor arising from the pericytes surrounding capillaries [1]
GPC was distinguished from hemangiopericytoma and solitary fibrous tumors and categorized as a borderline and low-malignantpotential soft-tissue tumor of the nose and paranasal sinuses by the World Health Organization in 2005 [2]
We report a case of GPC treated with endoscopic sinus surgery (ESS) and analysis of mutations in cancer-related genes using nextgeneration sequencing (NGS)

Summary

Introduction

Glomangiopericytoma (GPC), called sinonasal-type hemangiopericytoma, is a rare mesenchymal tumor arising from the pericytes surrounding capillaries [1]. GPC accounts for less than 0.5% of all sinonasal tumors. We report a case of GPC treated with endoscopic sinus surgery (ESS) and analysis of mutations in cancer-related genes using nextgeneration sequencing (NGS). A reddish tumor was observed in the right nasal. Computed tomography (CT) scan showed a mass occupying the right nasal cavity with strong enhancement (Fig. 1b, c). We diagnosed a benign tumor of the nasal cavity and resected the mass by ESS under general anesthesia. Oval-to-short spindle-shaped cells with uniform proliferation and stromal bleeding were observed (Fig. 2b). Immunohistologic analysis showed tumor cells with cytoplasmic staining for α-smooth muscle actin (SMA) (Fig. 2c) and Vimentin (Fig. 2d). Tumor cells were not stained for STAT6 (Fig. 2g), AE1/AE3, Bcl-2, CD34, CD117, Factor VIIIR Ag, or S-100 protein (data not shown).

Discussion

45 M 78 F 48 F 60 M 32 F

Findings

D32V S33C