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基于 EUS-FNA 细胞学的胃血管球瘤:4 例临床病理及免疫组化特征,包括 1 例伴有 MIR143HG-NOTCH2 融合基因。

Gastric glomus tumor on EUS-FNA-based cytology: clinicopathologic and immunohistochemical features of 4 cases, including 1 case with associated MIR143HG-NOTCH2 fusion gene.

机构信息

Department of Pathology and Laboratory Medicine, Henry Ford Health System, Detroit, Michigan.

Department of Pathology and Laboratory Medicine, Henry Ford Health System, Detroit, Michigan.

出版信息

J Am Soc Cytopathol. 2023 Jul-Aug;12(4):296-306. doi: 10.1016/j.jasc.2023.03.004. Epub 2023 Mar 22.

DOI:10.1016/j.jasc.2023.03.004
PMID:37072283
Abstract

INTRODUCTION

Gastric glomus tumor (GT) is a rare submucosal tumor for which the preoperative diagnosis can be challenging. We report the cytomorphologic and immunohistochemical features of 4 gastric GTs diagnosed by endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) cytology.

MATERIALS AND METHODS

Files were searched to identify gastric GTs diagnosed by EUS-FNA between 2018 and 2021. A total of 4 cases of gastric GTs (3 men and 1 women; mean age, 60 years) were included.

RESULTS

Three GTs were located in the gastric antrum and one in the gastric body. Their size ranged from 2 to 2.5 cm. Three patients presented with epigastric discomfort and one with chest wall discomfort. Rapid on-site evaluation was performed for 3 cases; the findings for all 3 were indeterminate. The smears were moderate to highly cellular and showed loose clusters of evenly distributed small- to medium-size bland tumor cells. The tumor cells had centrally located round to oval nuclei with inconspicuous nucleoli and scant to moderate amount of eosinophilic to clear cytoplasm. Examination of the cell blocks revealed branching small vessels surrounded by small- to medium-size cells. The neoplastic cells were positive for smooth muscle actin and synaptophysin and negative for AE1/AE3 and S-100. C-KIT and CD34 were variably positive. Ki-67 was <2% positive. In 1 case, the fusion panel-solid tumor (50 genes) revealed the MIR143HG-NOTCH2 fusion gene.

CONCLUSIONS

Smears and cell block preparation revealed angiocentric sheets of uniform, small round to oval tumor cells with pale to eosinophilic cytoplasm, intermingled with endothelial cells. The differential diagnosis of gastric GTs on rapid on-site evaluation includes neuroendocrine tumors and epithelioid or spindled cell neoplasms. Immunohistochemical and molecular studies can be helpful in the preoperative diagnosis of gastric GT.

摘要

简介

胃血管球瘤(GT)是一种罕见的黏膜下肿瘤,术前诊断具有挑战性。我们报告了 4 例经超声内镜引导下细针抽吸(EUS-FNA)细胞学诊断的胃 GT 的细胞形态学和免疫组织化学特征。

材料和方法

检索文件以确定 2018 年至 2021 年间经 EUS-FNA 诊断的胃 GT。共纳入 4 例胃 GT(3 名男性和 1 名女性;平均年龄 60 岁)。

结果

3 例 GT 位于胃窦,1 例位于胃体。它们的大小从 2 到 2.5 厘米不等。3 例患者表现为上腹部不适,1 例表现为胸壁不适。对 3 例患者进行了快速现场评估;所有 3 例的结果均不确定。涂片为中度至高度细胞性,显示均匀分布的中小圆形肿瘤细胞松散簇状。肿瘤细胞的核呈圆形或椭圆形,位于中央,核仁不明显,细胞质稀少至中等量嗜酸性至透明。细胞块检查显示分支的小血管被中小细胞包围。肿瘤细胞表达平滑肌肌动蛋白和突触素,AE1/AE3 和 S-100 阴性。C-KIT 和 CD34 阳性程度不同。Ki-67 阳性率<2%。在 1 例中,融合面板-实体瘤(50 个基因)显示 MIR143HG-NOTCH2 融合基因。

结论

涂片和细胞块制备显示均一的小圆形至椭圆形肿瘤细胞,伴中央位圆形核,核仁不明显,细胞质淡染至嗜酸性,呈血管中心性片状排列,与内皮细胞交织在一起。胃 GT 在快速现场评估中的鉴别诊断包括神经内分泌肿瘤和上皮样或梭形细胞肿瘤。免疫组织化学和分子研究有助于术前诊断胃 GT。

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