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Abstract：
BACKGROUND: Squamous cell carcinoma (SCC) of the dorsum of the tongue is extremely rare, and it clinically resembles various benign lesions. Somatic mutations in TP53 and some driver genes were implicated in the development of SCC; however, the somatic genetic characteristics of dorsal tongue SCC remain unknown. With a detailed analysis of gene mutations in dorsal tongue SCC, we aimed to better understand its biology.
METHODS: Four cases of SCC initially occurring on the tongue dorsum were evaluated for clinical and histological findings and immunohistochemical expression of p53 and p16. Gene mutations were analyzed using next-generation sequencing with a custom panel of driver genes.
RESULTS: We retrospectively investigated 557 cases of tongue SCC, and only four cases of SCC initially occurred on the tongue dorsum. The four patients (cases 1-4) were one woman and three men with a mean age of 53.75 years (range: 15-74 years). Histological analysis revealed well-differentiated SCC. Through molecular analysis, we identified pathogenic somatic mutations, namely, TP53 p.C176F (c.527G > T) in case 3 and TP53 p.R282W (c.844 C > T) in case 4. No pathogenic variants were identified in the PI3K/AKT or RAS/RAF pathways. The p53 immunohistochemical examination revealed a wild-type expression pattern in cases 1-3 and strong expression in case 4. The results of p16 immunostaining were negative in all cases.
CONCLUSIONS: We described four previously unreported genetic characteristics of dorsal tongue SCC. Somatic TP53 mutations may contribute to the development of a subset of dorsal tongue SCC; however, more cases with genetic analysis need to be accumulated.
METHODS: Four cases of SCC initially occurring on the tongue dorsum were evaluated for clinical and histological findings and immunohistochemical expression of p53 and p16. Gene mutations were analyzed using next-generation sequencing with a custom panel of driver genes.
RESULTS: We retrospectively investigated 557 cases of tongue SCC, and only four cases of SCC initially occurred on the tongue dorsum. The four patients (cases 1-4) were one woman and three men with a mean age of 53.75 years (range: 15-74 years). Histological analysis revealed well-differentiated SCC. Through molecular analysis, we identified pathogenic somatic mutations, namely, TP53 p.C176F (c.527G > T) in case 3 and TP53 p.R282W (c.844 C > T) in case 4. No pathogenic variants were identified in the PI3K/AKT or RAS/RAF pathways. The p53 immunohistochemical examination revealed a wild-type expression pattern in cases 1-3 and strong expression in case 4. The results of p16 immunostaining were negative in all cases.
CONCLUSIONS: We described four previously unreported genetic characteristics of dorsal tongue SCC. Somatic TP53 mutations may contribute to the development of a subset of dorsal tongue SCC; however, more cases with genetic analysis need to be accumulated.
摘要：
背景：舌背鳞状细胞癌（SCC）极为罕见，它在临床上类似于各种良性病变。TP53和一些驱动基因的体细胞突变与SCC的发展有关；然而，背舌SCC的体细胞遗传特征仍然未知。通过对背舌SCC基因突变的详细分析，我们的目的是更好地了解它的生物学。
方法：对4例最初发生在舌背端的SCC进行临床和组织学观察以及p53和p16的免疫组织化学表达。使用下一代测序与一组定制的驱动基因分析基因突变。
结果：我们回顾性调查了557例舌鳞状细胞癌，只有4例SCC最初发生在舌背。四名患者（病例1-4）为一名女性和三名男性，平均年龄为53.75岁（范围：15-74岁）。组织学分析显示分化良好的SCC。通过分子分析,我们确定了致病性体细胞突变，即,在案例3中TP53p.C176F(c.527G>T)和在案例4中TP53p.R282W(c.844C>T)。在PI3K/AKT或RAS/RAF途径中未鉴定出致病变体。p53免疫组织化学检查显示在病例1-3中为野生型表达模式，在病例4中为强表达。所有病例的p16免疫染色结果均为阴性。
结论：我们描述了舌背SCC的四个以前未报道的遗传特征。体细胞TP53突变可能有助于背舌SCC子集的发展；然而，需要积累更多的遗传分析病例。
方法：对4例最初发生在舌背端的SCC进行临床和组织学观察以及p53和p16的免疫组织化学表达。使用下一代测序与一组定制的驱动基因分析基因突变。
结果：我们回顾性调查了557例舌鳞状细胞癌，只有4例SCC最初发生在舌背。四名患者（病例1-4）为一名女性和三名男性，平均年龄为53.75岁（范围：15-74岁）。组织学分析显示分化良好的SCC。通过分子分析,我们确定了致病性体细胞突变，即,在案例3中TP53p.C176F(c.527G>T)和在案例4中TP53p.R282W(c.844C>T)。在PI3K/AKT或RAS/RAF途径中未鉴定出致病变体。p53免疫组织化学检查显示在病例1-3中为野生型表达模式，在病例4中为强表达。所有病例的p16免疫染色结果均为阴性。
结论：我们描述了舌背SCC的四个以前未报道的遗传特征。体细胞TP53突变可能有助于背舌SCC子集的发展；然而，需要积累更多的遗传分析病例。
