Seino Manabu, Sano Shiori, Gonai Yuta, Horikawa Shota, Nakamura Fumihiro, Okui Yosuke, Matsukawa Jun, Sakaki Hirotsugu, Watanabe Norikazu, Yamauchi Keiko, Ohta Tsuyoshi, Hoshi Yuki, Suzuki Shuhei, Kawai Masaaki, Nagase Satoru
Department of Obstetrics and Gynecology, Yamagata University Faculty of Medicine, 2-2-2 Iidanishi, Yamagata, 990-9585, Japan.
Genetic Counseling Unit, Yamagata University Hospital, Yamagata, Japan.
Int J Clin Oncol. 2025 May;30(5):1033-1039. doi: 10.1007/s10147-025-02730-4. Epub 2025 Apr 7.
This study aimed to reveal the gene alteration and tumor mutation burden (TMB) statuses of vulvar and vaginal malignant tumors in Japan.
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).
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.
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.
本研究旨在揭示日本外阴和阴道恶性肿瘤的基因改变及肿瘤突变负荷（TMB）状态。
我们调查了79例外阴和阴道癌患者的癌症基因组图谱（CGP）数据。这些数据来自癌症基因组学与先进治疗中心（C-CAT）。
所有患者均无高度微卫星不稳定。虽然21.9%的外阴和阴道鳞状细胞癌（SCC）患者TMB较高，但其他组织学类型的患者并非如此。SCC中最常见的单核苷酸变异（SNV）是TERT、TP53、CDKN2A、KMT2D和NOTCH1。TMB高的SCC中ATRX和PBRM1的频率显著高于TMB不高的SCC。
外阴和阴道SCC预计TMB较高，且TMB高和不高的组之间基因改变状态不同。
