Investigation of tumor mutation burden using the comprehensive genomic profiling data of vulvar and vaginal malignant tumors: an observational study using C-CAT database.

IF 2.8 3区医学 Q3 ONCOLOGY International Journal of Clinical Oncology Pub Date : 2025-05-01 Epub Date: 2025-04-07 DOI:10.1007/s10147-025-02730-4

Manabu Seino, Shiori Sano, Yuta Gonai, Shota Horikawa, Fumihiro Nakamura, Yosuke Okui, Jun Matsukawa, Hirotsugu Sakaki, Norikazu Watanabe, Keiko Yamauchi, Tsuyoshi Ohta, Yuki Hoshi, Shuhei Suzuki, Masaaki Kawai, Satoru Nagase

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Abstract

Background: This study aimed to reveal the gene alteration and tumor mutation burden (TMB) statuses of vulvar and vaginal malignant tumors in Japan.

Methods: We investigated the cancer genomic profiling (CGP) data of 79 patients with vulvar and vaginal cancers. These data were obtained from the Center for Cancer Genomics and Advanced Therapeutics (C-CAT).

Results: None of the patients had high microsatellite instability. Although 21.9% of the patients with vulvar and vaginal squamous cell carcinoma (SCC) had high TMB, those with other histological types did not. The top single-nucleotide variants (SNVs) in SCC were TERT, TP53, CDKN2A, KMT2D, and NOTCH1. The frequencies of ATRX and PBRM1 were significantly higher in TMB-high SCC than in non-TMB-high SCC.

Conclusion: SCC of the vulva and vagina is expected to have high TMB, and gene alteration status differed between TMB-high and non-TMB-high groups.

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利用外阴和阴道恶性肿瘤综合基因组图谱数据研究肿瘤突变负担：一项使用C-CAT数据库的观察性研究。

背景：本研究旨在揭示日本外阴和阴道恶性肿瘤的基因改变和肿瘤突变负荷（TMB）状况。方法：对79例外阴和阴道癌患者的肿瘤基因组图谱（CGP）数据进行分析。这些数据来自癌症基因组学和高级治疗中心（C-CAT）。结果：所有患者均无高微卫星不稳定性。虽然21.9%的外阴和阴道鳞状细胞癌（SCC）患者有高TMB，但其他组织学类型的患者没有高TMB。SCC中最常见的单核苷酸变异（snv）是TERT、TP53、CDKN2A、KMT2D和NOTCH1。ATRX和PBRM1在tmb -高SCC中的频率明显高于非tmb -高SCC。结论：外阴、阴道鳞状细胞癌可能存在高TMB，且TMB高组与非TMB高组间基因改变情况存在差异。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

International Journal of Clinical Oncology 医学-肿瘤学

CiteScore

6.80

自引率

3.00%

发文量

175

审稿时长

2 months

期刊介绍： The International Journal of Clinical Oncology (IJCO) welcomes original research papers on all aspects of clinical oncology that report the results of novel and timely investigations. Reports on clinical trials are encouraged. Experimental studies will also be accepted if they have obvious relevance to clinical oncology. Membership in the Japan Society of Clinical Oncology is not a prerequisite for submission to the journal. Papers are received on the understanding that: their contents have not been published in whole or in part elsewhere; that they are subject to peer review by at least two referees and the Editors, and to editorial revision of the language and contents; and that the Editors are responsible for their acceptance, rejection, and order of publication.