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胸部SMARCA4缺陷不分化的瘤与不寻常的呈现:一个案例系列
Austin J Helmink1, Ahmad Alshomrani1, Scott R Lauer1
1Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE, USA.
胸部SMARCA4缺陷不分化的瘤 (SMARCA4-UT) 可能发生在老年人中,有时模仿骨肉瘤. 这些侵袭性瘤需要在吸烟者的形形瘤的差异诊断中加以考虑.
科学领域:
- 在瘤学瘤学.
- 病理学 病理学 病理学
- 遗传学 是一个遗传学.
背景情况:
- 胸部SMARCA4缺陷不分化的瘤 (SMARCA4-UT) 是一种与SMARCA4失活突变相关的侵袭性瘤.
- 这种瘤类型的特点是状形态,高线粒活性和亡,通常影响年轻吸烟者.
研究的目的:
- 在老年人中描述和比较三种不寻常的SMARCA4-UT表现.
- 讨论SMARCA4-UT的分子特征及其与SMARCA4-改变的非小细胞肺癌的关系.
- 为了突出一个呈现为转移性病变模仿原发性骨肉瘤的病例.
主要方法:
- 在CoPath中通过自然语言搜索识别案例.
- 对血素和乙素,帕帕尼科劳和Diff-Quik染色片的组织病理学检查.
- 免疫组织化学评估,包括BRG1/SMARCA4染色.
- 下一代测序用于对SMARCA4变化的分子测试.
主要成果:
- 确定了三名年龄在58-70岁之间的患者,他们有显著的吸烟史.
- 演示包括一个带有中淋巴腺病的阴骨质,中腺病,以及一个腹骨质.
- 所有的瘤都表现出多形拉布形细胞的扩散增殖,高线粒活性,亡,以及SMARCA4表达的丧失;分子测试在两个案例中证实了SMARCA4的改变.
结论:
- 胸部SMARCA4-UT应纳入 Pleomorphic Rhabdoid 瘤的差异诊断,在有吸烟史的老年人中.
- 虽然通常呈现为肺/中质,但SMARCA4-UT可以呈现为转移,模仿不分化的肉瘤,并构成诊断挑战.
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