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Updated: Jul 7, 2026
Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Investigation of tumor mutation burden using the comprehensive genomic profiling data of vulvar and vaginal malignant
Manabu Seino1, Shiori Sano2, Yuta Gonai2
1Department of Obstetrics and Gynecology, Yamagata University Faculty of Medicine, 2-2-2 Iidanishi, Yamagata, 990-9585, Japan. m-seino@med.id.yamagata-u.ac.jp.
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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