最初发生在舌头背部的状细胞癌:一个病例系列报告与分子分析
Sawako Ono1, Katsutoshi Hirose2, Shintaro Sukegawa3
1Department of Pathology and Oncology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikata-cho, Kita-ku, Okayama, Okayama, 700-8558, Japan.
Diagnostic pathology
|April 22, 2024
概括
舌头背部的状细胞癌 (SCC) 是罕见的. 遗传分析显示,TP53突变发生在背舌SCC的一个子集中,这表明它在其发展中发挥了作用.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 口腔病理学 口腔病理学
背景情况:
- 舌头背部的状细胞癌 (SCC) 异常罕见,经常被误诊为良性病变.
- 背舌SCC的遗传基础在很大程度上是未知的,尽管已知TP53和其他驱动基因参与SCC的发展.
研究的目的:
- 为了研究罕见的背舌SCC的体质遗传特征.
- 通过详细的基因突变分析,阐明背舌SCC的分子生物学.
主要方法:
- 追溯分析557个舌头SCC病例,以确定背部SCC.
- 在四个背部SCC病例中进行了临床和组织学评估,p53和p16的免疫组织化学,以及驱动基因突变的下一代测序.
主要成果:
- 在557个舌头SCC中,只有4例背部舌头SCC被确定.
- 在两个案例中发现TP53 (p.C176F和p.R282W) 的致病体突变.
- 在PI3K/AKT或RAS/RAF途径中没有发现突变;p53免疫组织化学表现有变化,p16在所有情况下都是负的.
结论:
- 这项研究描述了背舌SCC.的新型遗传特征.
- 身体TP53突变与背部舌头SCC的一个子集的发病有关.
- 为了全面理解,需要进一步积累基因分析的病例.
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