胃腺癌与肠芽细胞分化的胃腺癌
Ádám Ferenczi1, Levente Kuthi2,3, Anita Sejben1
1Department of Pathology, University of Szeged, Szeged, Hungary.
概括
胃腺癌与肠芽细胞分化 (GAED) 是一种罕见的癌症. 整体外体序列测定在一个具有神经内分泌标记的GAED病例中发现了新的突变,有助于差异诊断.
科学领域:
- 胃肠病学 胃肠病学
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 胃腺癌与肠芽细胞分化 (GAED) 是一种罕见的胃癌亚型,预后较差.
- 在组织学上,GAED具有胎儿肠状结构和具有清晰细胞质的瘤细胞,对肠芽细胞标志物呈阳性.
- 本报告详细介绍了一例GAED病例,该病例表现出神经内分泌标记物的阳性.
研究的目的:
- 为了呈现一种罕见的GAED病例,具有神经内分泌标志物阳性.
- 使用整体外体序列测序 (WES) 调查这个GAED亚型的遗传格局.
- 通过审查相关文献,为GAED的差异诊断做出贡献.
主要方法:
- 一个68岁的女性患者的案例研究,怀疑患有胃癌.
- 组织病理学检查,包括针对各种标记物的免疫组织化学 (IHC) (SALL4,Glypican 3,Syntaxin-1,Chromogranin,AFP,P53).
- 整体外体序列测序 (WES) 用于识别遗传突变.
主要成果:
- 瘤表现出GAED的特征,对神经内分泌标记物 (Syntaxin-1,Chromogranin) 的焦点阳性.
- 免疫组织化学检测显示SALL4和Glypican 3的阳性,最少的不确定性是AFP的阳性和P53的零表型.
- 发现了4种致病性突变 (TP53,KLHL7,RAPSN,ACTA1) 和3种可能致病性突变 (PNKP,HNF1A,ADNP).
结论:
- GAED是一种罕见的胃腺癌亚型,病因不明.
- 在WES分析中,在这个GAED病例中发现了新的致病性和可能致病性突变.
- 不同诊断应该排除肝细胞腺癌和转移性瘤.
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