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带有SMARCA4突变的食道癌:独特的诊断挑战

Min Cui¹, Kayla Lemmon², Zhicheng Jin¹

¹Department of Pathology, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.

Pathology, research and practice

|July 17, 2023

概括

缺少SMARCA4的食道癌由于形态的多样性而带来诊断挑战. 准确的分类需要识别其光谱并使用BRG1免疫染色和下一代测序.

科学领域:

在瘤学瘤学.
病理学病理学病理学
分子生物学分子生物学

背景情况:

带有SMARCA4缺乏或功能障碍的食道癌是最近发现的疾病.
包括深度删除和误解突变在内的SMARCA4突变与这种罕见的实体有关.

研究的目的:

描述与SMARCA4突变相关的食道癌的临床病理特征.
突出诊断挑战和必要的分子工具,用于准确的分类.

主要方法:

对4例SMARCA4突变病例的临床病理学分析.
组织学检查,包括评估线粒活动,核特征,腺体和形态.
针对BRG1的免疫组织化学和SMARCA4和TP53突变的下一代测序.

主要成果:

四例病例 (3名男性,1名女性;年龄在45-68岁) 呈现出可变的形态,包括频繁的线粒分裂,大核,偶尔的腺体或形状特征.
通过下一代测序证实了SMARCA4的深度删除或突变.
在所有三个病例中都存在TP53突变,SMARCA4具有深度删除.
两名患者在78天内死亡; 其他患者的治疗反应不佳.

结论:

带有SMARCA4突变的食道癌会给病理学家带来诊断困难,因为其形态和免疫特征是可变的.
准确的诊断需要识别形态谱和使用BRG1免疫染和下一代测序.

关键词:

这就是BRG1的原因.深度删除删除深度消化道中的食道.下一代测序测序是什么这就是SMARCA4的标志.这就是TP53的特点.

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