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Association of gene mutations with clinicopathologic features in patients with external auditory canal squamous cell carcinoma

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Title: Association of gene mutations with clinicopathologic features in patients with external auditory canal squamous cell carcinoma
Authors: Morita, Shinya Browse this author
Kano, Satoshi Browse this author →KAKEN DB
Hatanaka, Kanako C. Browse this author
Hatanaka, Yutaka Browse this author
Suzuki, Takayoshi Browse this author
Fukuda, Atsushi Browse this author
Hoshino, Kimiko Browse this author
Fujiwara, Keishi Browse this author
Nakamaru, Yuji Browse this author →KAKEN DB
Homma, Akihiro Browse this author →KAKEN DB
Keywords: External auditory canal cancer
Squamous cell carcinoma
Next-generation sequencing
Gene mutations
Clinicopathologic features
Issue Date: 1-Sep-2022
Publisher: Springer
Journal Title: International journal of clinical oncology
Volume: 27
Issue: 9
Start Page: 1394
End Page: 1403
Publisher DOI: 10.1007/s10147-022-02191-z
Abstract: Background External auditory canal squamous cell carcinoma (EACSCC) is a rare form of malignant tumor. Due to the extremely limited understanding of the genomic landscape in EACSCC, the association between gene mutations and clinicopathologic features remains unclear. This study aimed to explore somatic gene mutations associated with the clinicopathological features in patients with EACSCC, and to identify the candidate gene mutations for predicting survival outcome in EACSCC. Methods Twenty-two tissue samples obtained from patients with EACSCC were analyzed for genetic mutations based on targeted next-generation sequencing and genetic expression based on IHC staining to investigate the driver of tumorigenesis and/or the candidates of genes for predicting clinical outcome in EACSCC. Results Gene alterations were most frequently observed in TP53 (59.1%), followed by CREBBP (9.1%). TP53 mutations showed significant correlation with T classification (P = 0.027) and p53 expression phenotype (P < 0.001). The 5-year overall survival (OS) rates for EACSCC patients with TP53 mutations and wild-type TP53 were 45.0% and 75.0%, respectively. Multivariable analysis using the Cox proportional hazards model demonstrated that TP53 mutations were independent predictors of OS rates for EACSCC patients (P = 0.007). Conclusion This study has suggested that TP53 mutations have potential for use as a biomarker for identifying individuals at high risk of developing tumors and for predicting survival outcome in EACSCC. IHC staining for p53 might play a useful role as screening tool for detecting TP53 mutations in patients with EACSCC.
Rights: This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature’s AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at:
Type: article (author version)
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 森田 真也

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