Mutational landscape of head and neck squamous cell carcinomas in a South Asian population

Ghias, Kulsoom; Rehmani, Sadiq; Razzak, Safina Abdul; Madhani, Sarosh Irfan; Azim, M. Kamran; Ahmed, Rashida; Khan, Mohammad Javed

doi:10.1590/1678-4685-gmb-2018-0005

Cited by 10 publications

(10 citation statements)

References 83 publications

(94 reference statements)

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“…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.…”

Section: Resultsmentioning

confidence: 99%

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

da Silva Santos,

de Carvalho Abreu,

Martins da Silva

et al. 2023

Head & Neck

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BackgroundThe involvement of the KMT2 methyltransferase family in the pathogenesis of head and neck squamous cell carcinoma (HNSCC) remains elusive.MethodThis study adhered to the PRISMA guidelines, employing a search strategy in the LIVIVO, PubMed, Scopus, Embase, Web of Science, and Google Scholar databases. The methodological quality of the studies was assessed by the Joanna Briggs Institute.ResultsA total of 33 studies involving 4294 individuals with HNSCC were included in this review. The most important alteration was the high mutational frequency in the KMT2C and KMT2D genes, with reported co‐occurrence. The expression of the KMT2D gene exhibited considerable heterogeneity across the studies, while limited data was available for the remaining genes.ConclusionsKMT2C and KMT2D genes seem to have tumor suppressor activities, with involvement of cell cycle inhibitors, regulating different pathways that can lead to tumor progression, disease aggressiveness, and DNA damage accumulation.

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Section: Resultsmentioning

confidence: 99%

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

da Silva Santos,

de Carvalho Abreu,

Martins da Silva

et al. 2023

Head & Neck

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“…In comparison, human papillomavirus (HPV) infection is a well-recognized factor, in addition to smoking and alcohol for SCCHN in Western countries. A study conducted in the Pakistani population with HPV-OSCC showed variation in driver genes mutation, including FGFR2 , ARID2, ALK , MLL3 , MYC, and ASNS, compared to dysregulated FGFR3 , E2F1 , and TRAF3 in HPV+ tumors [ 25 ]. In the current study, we did not evaluate the HPV status in our samples; however, some samples in a previous study [ 7 ] showed positivity for p16 or HPV in situ hybridization, indicating that HPV status might lead to differences in immune cell profiles as well as mutational landscapes.…”

Section: Discussionmentioning

confidence: 99%

Differential Regulation of Innate Lymphoid Cells in Human and Murine Oral Squamous Cell Carcinoma

Syed

Qureshi

Khan

et al. 2023

IJMS

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Oral squamous cell carcinomas (OSCC) remain a major healthcare burden in Asian countries. In Pakistan alone, it is the most common cancer in males and second only to breast cancer in females. Alarmingly, treatment options for OSCC remain limited. With this context, investigations made to explore the inflammatory milieu of OSCC become highly relevant, with the hope of practicing immunotherapeutic approaches to address this highly prevalent tumor. We investigated the newly identified innate lymphoid cells (ILCs) and associated cytokines in well-defined human oral squamous cell carcinoma (OSCC) as well as in a 7,12-dimethylbenz[a]anthracene (DMBA)-induced murine model of OSCC using flow cytometry and quantitative real-time polymerase chain reaction (qPCR). We further went on to explore molecular circuitry involved in OSCC by developing a murine model of OSCC and using an α-Thy1 antibody to inhibit ILCs. Amongst the ILCs that we found in human OSCC, ILC3 (23%) was the most abundant, followed by ILC2 (17%) and ILC1 (1%). Mice were divided into four groups: DMBA (n = 33), DMBA+antibody (Ab) (n = 30), acetone (n = 5), and control (n = 5). In murine OSCC tissues, ILC1 and ILC3 were down-infiltrated, while ILC2 remained unchanged compared to controls. Interestingly, compared to the controls (DMBA group), mice treated with the α-Thy1 antibody showed fewer numbers of large tumors, and a larger percentage of these mice were tumor-free at this study’s end point. We present novel data on the differential expansion/downsizing of ILCs in OSCC, which provides a pivotal basis to dive deeper into molecular circuitry and the OSCC tumor niche to devise novel diagnostic, therapeutic, and prognostic strategies to prevent/treat oral cancers.

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“…The responders also showed overexpression of ASNS ( 13 ). However, high expression of this gene is indispensable for oral SCC progression ( 77 ) and adaptation to nutrient deprivation and hypoxia ( 78 ), and may inhibit apoptosis. The other two genes, Nrf2 and Itga6, known to be promoting factors of chemoresistance, are overexpressed in the non-responders ( 15 , 16 ).…”

Section: Discussionmentioning

confidence: 99%

Predictive Biomarkers for Response and Toxicity of Induction Chemotherapy in Head and Neck Cancers

Boguszewicz

2022

Front. Oncol.

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This review focuses on the molecular biology of head and neck squamous cell carcinomas and presents current and emerging biomarkers of the response of patients to induction chemotherapy. The usefulness of genes, proteins, and parameters from diagnostic clinical imaging as well as other clinicopathological parameters is thoroughly discussed. The role of induction chemotherapy before radiotherapy or before chemo-radiotherapy is still debated, as the data on its efficacy are somehow confusing. Despite the constant improvement of treatment protocols and the introduction of new cytostatics, there is still no consensus regarding the use of induction chemotherapy in the treatment of head and neck cancer, with the possible exception of larynx preservation. Such difficulties indicate that potential future treatment strategies should be personalized. Personalized medicine, in which individual tumor genetics drive the selection of targeted therapies and treatment plans for each patient, has recently emerged as the next generation of cancer therapy. Early prediction of treatment outcome or its toxicity may be highly beneficial for those who are at risk of the development of severe toxicities or treatment failure—a different treatment strategy may be applied to these patients, sparing them unnecessary pain. The literature search was carried out in the PubMed and ScienceDirect databases as well as in the selected conference proceedings repositories. Of the 265 articles and abstracts found, only 30 met the following inclusion criteria: human studies, analyzing prediction of induction chemotherapy outcome or toxicity based on the pretreatment (or after the first cycle, if more cycles of induction were administered) data, published after the year 2015. The studies regarding metastatic and recurrent cancers as well as the prognosis of overall survival or the outcome of consecutive treatment were not taken into consideration. As revealed from the systematic inspection of the papers, there are over 100 independent parameters analyzed for their suitability as prognostic markers in HNSCC patients undergoing induction chemotherapy. Some of them are promising, but usually they lack important features such as high specificity and sensitivity, low cost, high positive predictive value, clinical relevance, short turnaround time, etc. Subsequent studies are necessary to confirm the usability of the biomarkers for personal medicine.

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Mutational landscape of head and neck squamous cell carcinomas in a South Asian population

Cited by 10 publications

References 83 publications

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

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

Differential Regulation of Innate Lymphoid Cells in Human and Murine Oral Squamous Cell Carcinoma

Predictive Biomarkers for Response and Toxicity of Induction Chemotherapy in Head and Neck Cancers

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