Somatic mutations in oral squamous cell carcinomas in 98 Japanese patients and their clinical implications

KMT2 (MLL) family of methyltransferases in head and neck squamous cell carcinoma: A systematic review

“…Moreover, the co‐occurrence of KMT2D and KMT2C mutations has been reported by several studies, which may suggest an important epigenetic event in HNSCC carcinogenesis 23,25,30,33,37,40,46,48–51 . In a similar study that also utilized data from the cBioPortal, a significant trend toward the co‐occurrence of KMT2C and KMT2D mutations was observed in lung adenocarcinoma and squamous cell carcinoma (p‐value <0.001), and these mutations were associated with driver mutations in PIK3CA , PTEN , and ARID1A in various cancer types 13 .…”

“…Regarding the risk of bias evaluated by Joanna Briggs Institute Critical Appraisal Checklist for Studies Reporting Prevalence Data, 18 studies were classified as having a low risk of bias, 27,29,34,35,37–45,49–51,54,55 and the others 15 were classified as having a moderate risk of bias 23–26,28,30–33,36,46–48,52,53 . The summary of each study's risk of bias assessment is in Table S3.…”

“…The most frequently altered gene, KMT2D (6.19%), was mentioned by 21 23,25,26,30–33,35,37,40,41,44,46–54 out of 29 studies that addressed mutational profile. In these investigations, the specimens exhibited a broad spectrum of genetic mutations within this particular gene, all with the potential to result in functional impairment.…”

“…KMT2C mutations (3.53%) were identified by 14 23,25,30,33,36,37,39,40,46,48–51,55 out of 29 studies, which detected different mutations, such as single nucleotide variation, nonsense mutation, missense mutation, synonymous variation, and frameshift deletion. Curiously, one study showed that all KMT2C mutated cell lines also displayed CDKN2A promoter methylation 46 …”

TERT promoter mutation positive oral cavity carcinomas, a clinically and genetically distinct subgroup of head and neck squamous cell carcinomas

“…[6][7][8] Genetic mutation studies have focused on young-onset OCSCC, with TP53, CDKN2A, CASP8, NOTCH1, and FAT1 being reported as driver gene mutations. 9 Comprehensive genomic profiling tests for HNSCC have been developed based on the Cancer Genome Atlas (TCGA) project in the United States, 10 but real-world studies in Asia remain scarce (China, 11 Taiwan, 12 and Japan 13 ). To overcome this situation, we conducted a retrospective observational study at the Center for Cancer Genomics and Advanced Therapeutics (C-CAT), which has obtained consent to be used after the comprehensive cancer genome profiling test that is covered by insurance in Japan since 2019.…”