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Somatic mutations in oral squamous cell carcinomas in 98 Japanese patients and their clinical implications.
Osawa, Yuko; Aoyama, Ken-Ichi; Hosomichi, Kazuyoshi; Uchibori, Masahiro; Tajima, Atsushi; Kimura, Minoru; Ota, Yoshihide.
Afiliación
  • Osawa Y; Department of Oral and Maxillofacial Surgery, Tokai University School of Medicine,143 Shimokasuya, Isehara, Kanagawa, Japan.
  • Aoyama KI; Department of Oral and Maxillofacial Surgery, Tokai University School of Medicine,143 Shimokasuya, Isehara, Kanagawa, Japan.
  • Hosomichi K; The Institute of Medical Sciences, Tokai University, 143 Shimokasuya, Isehara, Kanagawa, Japan.
  • Uchibori M; Department of Oral and Maxillofacial Surgery, Tokai University School of Medicine,143 Shimokasuya, Isehara, Kanagawa, Japan.
  • Tajima A; Department of Bioinformatics and Genomics, Graduate School of Advanced Preventive Medical Sciences, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa, Japan.
  • Kimura M; The Institute of Medical Sciences, Tokai University, 143 Shimokasuya, Isehara, Kanagawa, Japan.
  • Ota Y; Department of Oral and Maxillofacial Surgery, Tokai University School of Medicine,143 Shimokasuya, Isehara, Kanagawa, Japan. Electronic address: oy37299@tsc.u-tokai.ac.jp.
Cancer Treat Res Commun ; 29: 100456, 2021.
Article en En | MEDLINE | ID: mdl-34563788
INTRODUCTION: The somatic mutational profile of oral squamous cell carcinoma (OSCC) among Japanese patients has been less investigated, partly because of the rarity of the tumor. Moreover, previous studies have either used formalin-fixed paraffin-embedded samples or lacked paired normal tissues. We aimed to determine somatic mutations in the exomes of 76 genes, including 50 driver genes of solid cancers and NOTCH-related genes, some of which are previously reported as frequently mutated in head and neck squamous cell carcinoma or OSCC. MATERIALS AND METHODS: We used fresh-frozen tumor/normal-paired samples from 98 treatment-naïve Japanese patients with OSCC and analyzed their correlations with clinicopathological characteristics and survival. RESULTS: We identified 136 exonic mutations, including 78 non-synonymous mutations, 13 synonymous mutations, 22 nonsense mutations, 2 non-frameshift deletions, 11 frameshift deletion, and 5 each of splice-site and frameshift insertions. The most frequently mutated genes were TP53 (36.7%), FAT1 (9.2%), NOTCH1 (8.2%), CDKN2A (7.1%), ZFHX4 (5.1%), CASP8 (4.1%), EP300 (4.1%), and KMT2D (4.1%). We followed up 90 of the 98 patients for 3 years. Among them, TP53 mutation was associated with significantly shorter 3-year disease-free survival. Most of the identified TP53 mutations occurred in the DNA-binding domain and were functionally deleterious. DISCUSSION: Our findings and the mutation spectra can contribute to the development of a therapeutic strategy for Japanese patients with OSCC.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias de la Boca / Carcinoma de Células Escamosas Tipo de estudio: Prognostic_studies Límite: Aged / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Cancer Treat Res Commun Año: 2021 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias de la Boca / Carcinoma de Células Escamosas Tipo de estudio: Prognostic_studies Límite: Aged / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Cancer Treat Res Commun Año: 2021 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido