Oral squamous cell carcinoma of the tongue dorsum with multiple cancer-associated mutations in the TP53 gene
Oral squamous cell carcinoma of the tongue dorsum with multiple cancer-associated mutations in the TP53 gene
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舌背口腔鳞状细胞癌，伴有 TP53 基因多种癌症相关突变
DOI：
10.1016/j.oraloncology.2020.104774
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发表时间：
2020
期刊：
影响因子：
4.8
通讯作者：
Okamoto Tetsuji
中科院分区：
文献类型：
--
作者：
Yamasaki Sachiko;Tani Ryouji;Sakurai Shigeru;Toratani Shigeaki;Okamoto Tetsuji
目的舌鳞状细胞癌（SCC）是最常见的口腔癌之一，舌背是原发性鳞状细胞癌的低发病率部位。我们报告一例罕见的舌背鳞状细胞癌，患者为69岁男性，有多种癌症病史，包括食管癌、胃癌和肾细胞癌。我们将讨论与过去报告相关的研究结果。材料与方法采用患者外周血单个核细胞和肿瘤部位经福尔马林固定、石蜡包埋的组织切片提取的基因组DNA进行PCR扩增，并测序。结果体格检查发现舌背有一弹性硬块，大小为22 × 15 mm。颈部及下颌下未见明显肿大淋巴结。行切口活检。诊断为舌高分化鳞状细胞癌，T2N0M0， II期，通过手术治疗。深溃疡区手术标本显示p16蛋白表达增加，p53蛋白未表达。他有一个杂合基因多态性（c.215C > G: p.Pro72Arg）和一个种系突变（c.838A > T: p.Arg280*）的tp53。随访3年，未见舌癌复发或转移。结论ermlinetp53突变和密码子72多态性是细胞增殖失控的危险因素，可能导致患者的临床表型。因此，在治疗因atp53突变而有较高癌症风险的患者时，需要严格的随访。
ObjectivesSquamous cell carcinoma (SCC) of the tongue is one of the most common oral cancers, tongue dorsum being a site of low incidence of primary SCC. We report a rare case of SCC of the tongue dorsum in a 69-year-old man having a history of multiple cancers, including esophageal cancer, gastric cancer, and renal cell carcinoma. We discuss the findings in relation to past reports.Materials and methodsTP53was PCR amplified using the genomic DNA extracted from peripheral blood mononuclear cells and formalin-fixed, paraffin-embedded tissue sections from the tumor site of the patient, and was sequenced.ResultsPhysical examination revealed an elastic hard mass on the tongue dorsum, with a size of 22 × 15 mm. There were no palpable enlarged lymph nodes in the cervical and submandibular region. An incisional biopsy was performed. The diagnosis was well-differentiated SCC of tongue, T2N0M0, Stage II, and was treated through surgery. Surgical specimen of the deep ulcer area showed increased expression of p16 protein with no expression of p53 protein. He had a heterozygous gene polymorphism (c.215C > G: p.Pro72Arg) and a germline mutation (c.838A > T: p.Arg280*) of theTP53. However, there has been no recurrence or metastasis of the tongue carcinoma through the follow-up for 3 years.ConclusionGermlineTP53mutation and codon 72 polymorphism are risk factors for uncontrolled cell proliferation, possibly leading to the patient’s clinical phenotype. Therefore, strict follow-up is required when treating those who are at a higher risk of cancer due to aTP53mutation.