scholarly journals Epigenetic and Genetic Alterations Affect the WWOX Gene in Head and Neck Squamous Cell Carcinoma

PLoS ONE ◽  
2015 ◽  
Vol 10 (1) ◽  
pp. e0115353 ◽  
Author(s):  
Seda Ekizoglu ◽  
Pelin Bulut ◽  
Emin Karaman ◽  
Erkan Kilic ◽  
Nur Buyru
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Squamous Cell ◽  
Genetic Alterations ◽  
Neck Squamous Cell Carcinoma ◽  
Wwox Gene

The genomic architechtures of tumor-adjacent tissues, plasma and saliva reveal evolutionary underpinnings of relapse in head and neck squamous cell carcinoma.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e18046-e18046
Author(s):  
Ping Wu ◽  
Zicheng Yu ◽  
Chubo Xie ◽  
Ling Yang ◽  
Xuefeng Xia ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Squamous Cell ◽  
Evolutionary Relationship ◽  
Genetic Alterations ◽  
Neck Squamous Cell Carcinoma ◽  
Liquid Biopsies ◽  
Primary Tumors ◽  
Dismal Prognosis

e18046 Background: Head and neck squamous cell carcinoma (HNSCC) is characterized by dismal prognosis, nonetheless limited studies have unveiled the mechanisms underlying HNSCC relapse. Methods: Next-generation sequencing 1 5 was performed to identify somatic mutations in 188 matched samples including primary tumors, tumor adjacent tissues (TATs), pre- and post-operative plasma, saliva and peripheral blood lymphocytes (PBLs) from 27 patients. Evolutionary relationship between TATs and tumors were analyzed. The dynamic changes of tumor- and TAT-specific mutations in liquid biopsies were monitored together with survival analysis. Results: Alterations were detected in 27/27 and 19/26 tumors and TATs respectively. TP53 was the most prevalent genes mutated in TATs. Some TATs shared mutations with primary tumors, while some other TATs were evolutionarily unrelated to tumors. Notably, TP53 mutations in TATs are stringently associated with premalignant transformation and indicative of worse survival (HR=14.01). TAT-specific mutations were also detected in pre- and/or post-operative liquid biopsies, and indicative of disease relapse. Conclusions: TATs might undergo the processes of premalignant transformation, tumorigenesis, and eventually relapse by either inheriting tumorigenic mutations from ancestral clones where tumor originated or gaining private mutations independent to primary tumor. Detection of tumor- and/or TAT-specific genetic alterations in post-operative biopsies shows profound potential in prognostic use.

scholarly journals Genetic alterations between primary head and neck squamous cell carcinoma and recurrence after radiotherapy

Cancer ◽  
2010 ◽  
Vol 116 (5) ◽  
pp. 1291-1297 ◽  
Author(s):  
Alberto Deganello ◽  
Alessandro Franchi ◽  
Iacopo Sardi ◽  
Lorenzo Pignataro ◽  
C. René Leemans ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Squamous Cell ◽  
Genetic Alterations ◽  
Neck Squamous Cell Carcinoma

scholarly journals Decoding the Genetic Alterations in PRAME Gene Family and Its Association with Head and Neck Squamous Cell Carcinoma

2020 ◽  
pp. 93-102
Author(s):  
J. Dhivyadharshini ◽  
A. S. Smiline Girija ◽  
A. Paramasivam ◽  
J. Vijayashree Priyadharsini
Keyword(s):  
Gene Expression ◽  
Squamous Cell Carcinoma ◽  
Survival Rate ◽  
Gene Family ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Expression Profile ◽  
Squamous Cell ◽  
Genetic Alterations ◽  
Neck Squamous Cell Carcinoma

Head and neck squamous cell carcinoma (HNSCC) is the most common form of cancer with an incidence rate greater in male than in female. Advancements in molecular diagnostics have identified several pathways which can have a direct or indirect role in the development and progression of HNSCC. The PRAME (PReferentially Antigen expressed in MElanoma) gene family is yet another group of genes which has been recently implicated in HNSCC. The present study aims to identify the genetic alterations, the pattern of gene expression and the consequence of mutations in the PRAME family of genes in HNSCC patients. Several databases such as cBioportal, gnomAD, IMutant, PROVEAN were used to assess genetic alterations. The alterations included deep deletions, amplification, inframe, missense, truncating mutations. The gene showing the highest frequency of alteration (PRAME - 3%) was further assessed for its gene expression profile using the UALCAN database. The expression profile relative to normal samples was found to be significantly higher in HNSCC patients (p = 1.11 x 10-16). Further, the survival curve based on high and low/medium expression of the PRAME gene was assessed by Kaplan-Meier method. The analysis revealed a significant difference in the survival rate of patients with high and low/medicum level expression (0.0095). In addition, the high level expression was found to be associated with poor survival rate in HNSCC patients compared to those exhibiting low and medium level expression. In conclusion the study provides insights into the putative association of genes of the PRAME family with HNSCC. The preliminary results have to be further validated using experimental procedures.

scholarly journals Genetic alterations and field defect in head and neck squamous cell carcinoma

2012 ◽  
Vol 10 (Suppl 4) ◽  
pp. A21
Author(s):  
J K Strzelczyk ◽  
Ł Krakowczyk ◽  
M Kwaśniewski ◽  
A Płachetka ◽  
K Gołąbek ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Squamous Cell ◽  
Genetic Alterations ◽  
Neck Squamous Cell Carcinoma ◽  
Field Defect

scholarly journals Comprehensive Analysis of Mutation-Based and Expressed Genes-Based Pathways in Head and Neck Squamous Cell Carcinoma

Processes ◽  
2021 ◽  
Vol 9 (5) ◽  
pp. 792
Author(s):  
Bhumsuk Keam ◽  
Jin Young Park ◽  
Jinpyo Kim ◽  
Gun Do Kim ◽  
Yunsuk Yu ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Mrna Expression ◽  
Signaling Pathways ◽  
Squamous Cell ◽  
Checkpoint Inhibitors ◽  
Single Gene ◽  
Genetic Alterations ◽  
Neck Squamous Cell Carcinoma

Over- or under-expression of mRNA results from genetic alterations. Comprehensive pathway analyses based on mRNA expression are as important as single gene level mutations. This study aimed to compare the mutation- and mRNA expression-based signaling pathways in head and neck squamous cell carcinoma (HNSCC) and to match these with potential drug or druggable pathways. Altogether, 93 recurrent/metastatic HNSCC patients were enrolled. We performed targeted gene sequencing using Illumina HiSeq-2500 for NGS, and nanostring nCounter® for mRNA expression; mRNA expression was classified into over- or under-expression groups based on the expression. We investigated mutational and nanostring data using the CBSJukebox® system, which is a big-data driven platform to analyze druggable pathways, genes, and protein-protein interaction. We calculated a Treatment Benefit Prediction Score (TBPS) to identify suitable drugs. By mapping the high score interaction genes to identify druggable pathways, we found highly related signaling pathways with mutations. Based on the mRNA expression and interaction gene scoring model, several pathways were found to be associated with over- and under-expression. Mutation-based pathways were associated with mRNA under-expressed genes-based pathways. These results suggest that HNSCCs are mainly caused by the loss-of-function mutations. TBPS found several matching drugs such as immune checkpoint inhibitors, EGFR inhibitors, and FGFR inhibitors.

scholarly journals Genetic alterations in Wnt family of genes and their putative association with head and neck squamous cell carcinoma

2021 ◽  
Vol 19 (1) ◽  
pp. e6
Author(s):  
Aditya Jain ◽  
Smiline Girija A. S. ◽  
Paramasivam A. ◽  
Vijayashree Priyadharsini J.
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Squamous Cell ◽  
Genetic Alterations ◽  
Neck Squamous Cell Carcinoma

A combined genomic and immune profile in patients with head and neck squamous cell carcinoma treated with immunotherapy: A pilot study.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e18506-e18506
Author(s):  
Andrea Botticelli ◽  
Silvia Mezi ◽  
Giulia Pomati ◽  
Ilaria Zizzari ◽  
Bruna Cerbelli ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Pilot Study ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Squamous Cell ◽  
Genetic Alterations ◽  
Neck Squamous Cell Carcinoma ◽  
Molecular Profile ◽  
Immune Profile ◽  
Early Progression

e18506 Background: In head and neck squamous cell carcinoma (HNSCC) only a small subset of patients (pts) really benefits from immunotherapy, suggesting the need of validated molecular and immunological predictive biomarkers. The aim of the study was to evaluate both the genomic and immune profile of HNSCC correlating it to early progression to immunotherapy. Methods: This is a pilot study evaluating immune and molecular profile in platinum-refractory HNSCC pts treated with Nivolumab. Blood samples were collected at baseline (T0) and at second cycle of therapy (T1). The immune profile was studied by multiplex assay, evaluating circulating: CD137, CTLA4, PD1, PDL1, PDL2, CD27, TIM3, LAG3, GITR, HVEM, BTLA, CD80, CD28 and IDO. The comprehensive genomic profile was evaluated at baseline on formalin-fixed paraffin-embedded samples of the tumor through Foundation One Cdx test. The results obtained were correlated with early progression (within 3 months from the start of therapy). Results: Ten pts were enrolled in the study. Early progression occurred in 6 pts (60%). Median progression free survival and overall survival were 3 months (1-11) and 6.5 months (1-12), respectively. In all patients ≥ 5 genetic mutations were detected; median number of mutation was 6 (5-14); 8/10 pts had a tumor mutational burden less than 10 Muts/mb. The more frequent genetic alterations involved the cycline-dependent-kynase pathway (9/10), the transcription factor associated gene TP53 (8/10) and the PI3K-Akt-PTEN signaling pathways (5/10). Less frequent alterations involved FGFR family (4/10), NOTCH signaling pathway (3/10) and TERT (4/10). Early progression was slightly associated with the number of mutations detected (p = 0.06). The rising or falling trend of circulating levels of biomarkers were detected in 9/10 pts and included modification in IDO (1/10), LAG3 (3/10), GITR (3/10), BTLA (3/10), CD137 (4/10), CTLA4 (4/10), PD1 (2/10), Tim3 (3/10), CD28 (3/10), HVEM (3/10), CD80 (2/10). No modifications were recorded in PDL1, PDL2 and CD27. Conclusions: Our results, although in a small cohort, highlighted the complexity and heterogeneity of landscape in HNSCC pts. A novel evaluation that combines molecular and immune profile is needed. In the context of a poor prognosis disease the combination of personalized molecular and immune approaches could represent a promising strategy to improve survival.

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