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胃SMARCA4缺失性未分化癌6例临床病理分析

Clinicopathological analysis of 6 patients with gastric SMARCA4-deificient undifferentiated carcinoma
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摘要 目的 探讨胃SMARCA4缺失性未分化癌(SMARCA4DUC)的临床病理特征、免疫表型、鉴别诊断及预后。方法 收集6例确诊为胃SMARCA4DUC患者的临床病理资料,总结其组织学特点及免疫表型,并复习相关文献。结果 6例患者中男5例、女1例,中位年龄65(49~72)岁。镜下表现为肿瘤细胞呈弥漫片状分布,细胞黏附性差,局部区域可呈横纹肌样,细胞质丰富、嗜酸,核呈空泡状,核仁明显,核分裂相易见,肿瘤内常见大片状坏死。免疫组化显示:6例肿瘤细胞SMARCA4均完全缺失表达(6/6),而SMARCB1均阳性表达(4/4);上皮标志物AE1/AE3部分患者阳性(4/6),其中1例为弥漫阳性,3例为点灶弱阳性;神经内分泌标志物SYN大部分患者局部中等程度阳性(5/6);Ki-67增殖指数约70%~80%。5例患者获得随访,3例1 a内死亡。结论 胃SMARCA4DUC是一类少见的高度恶性肿瘤,预后差。由于肿瘤缺乏特异性分化,易被误诊,熟悉这一肿瘤的特点并行SMARCA4、SMARCB1检测有助于诊断。 Objective To examine the clinicopathological features, immunohistochemical features, differential diagnosis and prognosis of gastric SMARCA4-deificient undifferentiated carcinoma(SMARCA4DUC). Methods The clinicopathological data of 6 patients with gastric SMARCA4DUC were collected. The pathological and immunohistochemical characteristics were analyzed and the relevant literatures were reviewed. Results Among the 6 patients, there were 5 males and 1 female with a median age of 65 (49-72) years. Histologically, the tumor cells were arranged in sheets, nests or cords. The tumor cells were rhabdoid with poor adhesion, rich and eosinophilic cytoplasm, vacuolated nucleus and vesicular nuclei. The tumors showed high mitosis and massive necrosis. Immunohistochemical findings showed that SMARCA4 was undetectable in all the patients (6/6), while SMARCB1 was detected (4/4). The epithelial marker AE1/AE3 was positive in some patients (4/6), among which 1 patient was diffuse positive and 3 patients were focal weak positive. The neuroendocrine marker SYN was locally moderately positive in most patients (5/6).The Ki-67 index was 70%-80%. Five patients were followed up and 3 patients died. Conclusion Gastric SMARCA4DUC is a rare and highly aggressive tumor with poor prognosis. Due to the lack of specific differentiation, it is easy to be misdiagnosed. Being familiar with the characteristics of this tumor and detecting SMARCA4 and SMARCB1 are helpful for diagnosis.
作者 王丰 秦慧 白雪 WANG Feng;QIN Hui;BAI Xue(Department of Pathology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
出处 《肿瘤基础与临床》 2023年第2期116-119,共4页 journal of basic and clinical oncology
关键词 胃肿瘤 SMARCA4缺失 临床病理特征 gastric neoplasms SMARCA4-deificient clinicopathological characteristics
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