Oral squamous cell carcinoma of the tongue dorsum with multiple cancer-associated mutations in the TP53 gene

Sachiko Yamasaki; Ryouji Tani; Shigeru Sakurai; Shigeaki Toratani; Tetsuji Okamoto

doi:10.1016/j.oraloncology.2020.104774

Oral squamous cell carcinoma of the tongue dorsum with multiple cancer-associated mutations in the TP53 gene

Oral Oncol. 2020 Oct:109:104774. doi: 10.1016/j.oraloncology.2020.104774. Epub 2020 May 12.

Authors

Sachiko Yamasaki¹, Ryouji Tani², Shigeru Sakurai², Shigeaki Toratani³, Tetsuji Okamoto⁴

Affiliations

¹ Oral and Maxillofacial Surgery, Hiroshima University Hospital, 734-8553, Kasumi1-2-3, Minami-ku, Hiroshima City, Hiroshima, Japan. Electronic address: sayamasaki@hiroshima-u.ac.jp.
² Oral and Maxillofacial Surgery, Hiroshima University Hospital, 734-8553, Kasumi1-2-3, Minami-ku, Hiroshima City, Hiroshima, Japan.
³ Department of Molecular Oral Medicine and Maxillofacial Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, 734-8553, Kasumi1-2-3, Minami-ku, Hiroshima City, Hiroshima, Japan.
⁴ Department of Molecular Oral Medicine and Maxillofacial Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, 734-8553, Kasumi1-2-3, Minami-ku, Hiroshima City, Hiroshima, Japan; Faculty of Allied Health Sciences, University of East Asia, 751-8503, 2-1 Ichinomiyagakuenchō, Shimonoseki-shi, Yamaguchi, Japan.

PMID: 32451170
DOI: 10.1016/j.oraloncology.2020.104774

Abstract

Objectives: Squamous 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 methods: TP53 was 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.

Results: Physical 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 the TP53. However, there has been no recurrence or metastasis of the tongue carcinoma through the follow-up for 3 years.

Conclusion: Germline TP53 mutation 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 a TP53 mutation.

Keywords: Dorsum of the tongue; Multiple cancer; Squamous cell carcinoma; TP53.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Alleles
Biopsy
Carcinoma, Squamous Cell / diagnosis*
Carcinoma, Squamous Cell / genetics*
DNA Mutational Analysis
Genetic Association Studies
Genetic Predisposition to Disease*
Genotype
Germ-Line Mutation
Humans
Immunohistochemistry
Mutation*
Neoplasm Staging
Tongue Neoplasms / diagnosis*
Tongue Neoplasms / genetics*
Tumor Suppressor Protein p53*

Substances

TP53 protein, human
Tumor Suppressor Protein p53