伴GLI1遗传学改变的间叶性肿瘤并文献复习  

GLI1-altered mesenchymal tumor and review of literature

作　　者：高敏[1] 温玉莹 张丽君 郑晓玲 GAO Min;WEN Yu-ying;ZHANG Li-jun;ZHENG Xiao-ling(Department of Pathology,the Tenth Affiliated Hospital,Southern Medical University(Dongguan People's Hospital)/Dongguan Clinical Pathology Diagnosis Center/Dongguan Key Laboratory of Clinical Pathology,Dongguan 523059,China)

机构地区：[1]南方医科大学第十附属医院(东莞市人民医院)病理科/东莞市临床病理诊断中心/东莞市临床病理重点实验室,广东东莞523059

出　　处：《诊断病理学杂志》2025年第3期291-296,共6页Chinese Journal of Diagnostic Pathology

基　　金：广东省东莞市人民医院科研研培训项目(K202030)。

摘　　要：目的探讨伴GLI1遗传学改变的间叶性肿瘤的临床病理学特征及其鉴别诊断。方法回顾2例GLI1遗传学改变的间叶性肿瘤的临床资料、组织病理学形态、免疫表型及分子遗传学特点,并复习相关文献。结果肿瘤由形态一致的上皮样圆形、卵圆形细胞呈片状、巢状分布,胞质淡染嗜酸性或透亮,核染色质细腻,可见小核仁,瘤细胞间富含丰富的毛细血管网,脉管内见瘤栓,部分瘤细胞向血管腔内生长,核分裂象多少不等。免疫表型:2例肿瘤均显示CD56、MDM2和CDK4强而弥漫性染色,而S100蛋白均呈阴性表达;荧光原位杂交结果显示:GLI1与MDM2、DDIT3基因共扩增,GLI1断裂基因阴性。2例患者在最后一次随访时均无病生存。结论伴GLI1改变的间叶性肿瘤是一种新兴的具有独特形态学和细胞遗传学特征的肿瘤实体。Objective To study the clinicopathologic features and the differential diagnosis of GLI1-altered mesenchymal tumor.Methods The pathological features of 2 cases of GLI1-altered mesenchymal tumor with immunohistochemical and histopathology examinations retrospectively analysd with review related literatures.Results Histologically,tumors revealed ovoid to epithelioid cells arranged in a distinctive nested-trabecular pattern,with scant to moderate amount of cytoplasm and separated by thin septa and a delicate vascular network.Vessel invasion or subendothelial protrusion into the vascular space was commonly present.The tumor cells had a moderate amount of light eosinophilic to lucent cytoplasm with uniform round nuclei containing fine chromatin and small nucleoli.Immunohistochemically,two cases were positive for CD56,MDM2 and CDK4,diffuse and strong staining and both cases exhibited negative expression for S100 protein.High level GLI1 gene amplifications were detected,often being co-amplified with nearby genes located on the 12q13-q15 region,such as MDM2,DDIT 3 genes.The GLI1 break-apart gene was negative.Both of the two patients were disease-free at the last follow-up.Conclusion GLI1-altered mesenchymal tumor is an emerging tumor entity with unique morphological and cytogenetic characteristics.

关 键 词：GLI1扩增 GLI1重排 MDM2 间叶性肿瘤 周细胞瘤 

分 类 号：R739.9[医药卫生—肿瘤]