Difference in tumor mutation burden between squamous cell carcinoma in the oral cavity and larynx

Cui, Jiuwei; Wang, Daguang; Nie, Deheng; Liu, Wenhui; Sun, Meiting; Pei, Fengli; Han, Fujun

doi:10.1016/j.oraloncology.2020.105142

Cited by 4 publications

(2 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In concordance with two other reports on patients with HNSCC [34,44], this study found that TMB was associated with tumor location in a statistically significant way. The proportion of patients with laryngeal tumors was significantly increased, and oropharyngeal cancer decreased, in the TMB-(6+) group when compared to patients with any other throat tumor location.…”

Section: Discussionsupporting

confidence: 93%

Relationship between Tumor Mutational Burden, PD-L1, Patient Characteristics, and Response to Immune Checkpoint Inhibitors in Head and Neck Squamous Cell Carcinoma

Burcher

Lantz

Gavrila

et al. 2021

Cancers

View full text Add to dashboard Cite

Failure to predict response to immunotherapy (IO) limited its benefit in the treatment of head and neck squamous cell cancer (HNSCC) to 20% of patients or less. Biomarkers including tumor mutational burden (TMB) and programmed death ligand-1 (PD-L1) were evaluated as predictors of response to IO, but the results are inconsistent and with a lack of standardization of their methods. In this retrospective study, TMB and PD-L1 were measured by commercially available methodologies and were correlated to demographics, outcome, and response to PD-1 inhibitors. No correlation was found between TMB and PD-L1 levels. High TMB was associated with smoking and laryngeal primaries. PD-L1 was significantly higher in African Americans, patients with earlier stage tumors, nonsmokers, and nonethanol drinkers. Patients with high TMB fared better in univariate and multivariate survival analysis. No correlation was found between PD-L1 expression and prognosis. There was a statistically significant association between PFS and response to IO and TMB. There was no association between response to ICI and PD-L1 in this study, possibly affected by variations in the reporting method. Further studies are needed to characterize the biomarkers for IO in HNSCC, and this study supports further research into the advancement of TMB in prospective studies.

show abstract

Section: Discussionsupporting

confidence: 93%

Relationship between Tumor Mutational Burden, PD-L1, Patient Characteristics, and Response to Immune Checkpoint Inhibitors in Head and Neck Squamous Cell Carcinoma

Burcher

Lantz

Gavrila

et al. 2021

Cancers

View full text Add to dashboard Cite

show abstract

“…According to the studies conducted previously, the estimated TMB value for each sample is defined as the total mutation frequency divided by the length of the combined human exons (38 Mb) (68)(69)(70). We determined the TMB in patients with tumor and blood samples sufficient for WES (71,72). Different algorithms have been found to produce varying results regarding the tumor burden.…”

Section: Discussionmentioning

confidence: 99%

Precise Identification of Recurrent Somatic Mutations in Oral Cancer Through Whole-Exome Sequencing Using Multiple Mutation Calling Pipelines

et al. 2021

View full text Add to dashboard Cite

Understanding the genomic alterations in oral carcinogenesis remains crucial for the appropriate diagnosis and treatment of oral squamous cell carcinoma (OSCC). To unveil the mutational spectrum, in this study, we conducted whole-exome sequencing (WES), using six mutation calling pipelines and multiple filtering criteria applied to 50 paired OSCC samples. The tumor mutation burden extracted from the data set of somatic variations was significantly associated with age, tumor staging, and survival. Several genes (MUC16, MUC19, KMT2D, TTN, HERC2) with a high frequency of false positive mutations were identified. Moreover, known (TP53, FAT1, EPHA2, NOTCH1, CASP8, and PIK3CA) and novel (HYDIN, ALPK3, ASXL1, USP9X, SKOR2, CPLANE1, STARD9, and NSD2) genes have been found to be significantly and frequently mutated in OSCC. Further analysis of gene alteration status with clinical parameters revealed that canonical pathways, including clathrin-mediated endocytotic signaling, NFκB signaling, PEDF signaling, and calcium signaling were associated with OSCC prognosis. Defining a catalog of targetable genomic alterations showed that 58% of the tumors carried at least one aberrant event that may potentially be targeted by approved therapeutic agents. We found molecular OSCC subgroups which were correlated with etiology and prognosis while defining the landscape of major altered events in the coding regions of OSCC genomes. These findings provide information that will be helpful in the design of clinical trials on targeted therapies and in the stratification of patients with OSCC according to therapeutic efficacy.

show abstract

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

Osawa

Aoyama

Hosomichi

et al. 2021

Cancer Treatment and Research Communications

View full text Add to dashboard Cite

Difference in tumor mutation burden between squamous cell carcinoma in the oral cavity and larynx

Cited by 4 publications

References 28 publications

Relationship between Tumor Mutational Burden, PD-L1, Patient Characteristics, and Response to Immune Checkpoint Inhibitors in Head and Neck Squamous Cell Carcinoma

Relationship between Tumor Mutational Burden, PD-L1, Patient Characteristics, and Response to Immune Checkpoint Inhibitors in Head and Neck Squamous Cell Carcinoma

Precise Identification of Recurrent Somatic Mutations in Oral Cancer Through Whole-Exome Sequencing Using Multiple Mutation Calling Pipelines

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

Contact Info

Product

Resources

About