TY - JOUR
T1 - Glomangiopericytoma of the Nasal Cavity with CTNNB1 p.S37C Mutation
T2 - A Case Report and Literature Review
AU - Kono, Michihisa
AU - Bandoh, Nobuyuki
AU - Matsuoka, Ryosuke
AU - Goto, Takashi
AU - Akahane, Toshiaki
AU - Kato, Yasutaka
AU - Nakano, Hiroshi
AU - Yamaguchi, Tomomi
AU - Harabuchi, Yasuaki
AU - Nishihara, Hiroshi
N1 - Funding Information:
The authors would like to thank FORTE Scientific Communications (http://www.forte-science.co.jp) for editing a draft of this manuscript.
Publisher Copyright:
© 2018, The Author(s).
PY - 2019/9/1
Y1 - 2019/9/1
N2 - 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.
AB - 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.
KW - CTNNB1
KW - Endoscopic sinus surgery (ESS)
KW - Glomangiopericytoma (GPC)
KW - Next-generation sequencing (NGS)
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U2 - 10.1007/s12105-018-0961-z
DO - 10.1007/s12105-018-0961-z
M3 - Article
C2 - 30206803
AN - SCOPUS:85053420131
SN - 1936-055X
VL - 13
SP - 298
EP - 303
JO - Head and Neck Pathology
JF - Head and Neck Pathology
IS - 3
ER -