Identification of Highly Frequent TP53 Germline Variations in a Cohort of Head and Neck Cancer Cases

TP53 tumour suppressor gene inactivation plays a significant role in molecular pathology of cancers. TP53 germline mutations/variations increase the risk of developing multiple primary cancers. However, the role of such TP53 genetic alterations in head and neck cancers (HNCs) is not well-established. HNCs comprise one of the most frequent cancers in Karachi, Pakistan. The pilot study reports the investigation of germline mutations in TP53 gene in a cohort of 30 HNC patients from Pakistan. Blood samples were collected and genomic DNA was extracted from white blood cells. After quality control, amplification of seven selected exons along with their splice sites, two intronic regions (introns 2-3 and 3-4), and 3'UTR were carried out. Sanger sequencing was carried out in order to identify germline variations. Comparison with wild type sequence revealed 11099C>G (intron 2-3) variation in 90%, PIN3 duplication (intron 3-4) in 95%, and exon 4 C>G (rs1042522) alteration in 93.4% of the cases. In 3'UTR, gDNAdelCC1558 was found in 13.4% of the analyzed cases. In conclusion, we report three highly frequent germline variations and a newly discovered variation in 3'UTR in TP53 germline DNA of head and neck cancer patients from Pakistan. These results shall contribute in delineating the genetic component of head and neck cancers.

Download Full-text

Molecular Genetics of Head and Neck Cancer

Cancer Control ◽

10.1177/107327480200900502 ◽

2002 ◽

Vol 9 (5) ◽

pp. 369-378 ◽

Cited By ~ 38

Author(s):

Lyon L. Gleich ◽

Frank N. Salamone

Keyword(s):

Gene Therapy ◽

Head And Neck Cancer ◽

Head And Neck ◽

Cancer Cells ◽

Molecular Genetics ◽

Neck Cancer ◽

Genetic Material ◽

Genetic Alterations ◽

Head And Neck Cancers ◽

Multiple Genes

Background Head and neck cancers have multiple genetic abnormalities that influence tumor behavior and may be useful in developing new treatments. Methods Genetic alterations implicated in head and neck cancer oncogenesis and behavior are reviewed, and molecular techniques for detection and treatment are evaluated. Results The large number of genetic changes present in head and neck cancer cells precludes meaningful use of simple molecular tests and treatments. Detection of abnormalities in multiple genes provides better prognostic information than the detection and assessment of single mutations. Screening tests that rely on amplification of genetic material present in bodily fluids are hindered by the genomic complexity of head and neck cancer. Introduction of genetic material into head and neck cancer cells for gene therapy has shown some efficacy. Conclusions Head and neck cancers comprise a complex genetic disease. Although much has been learned about the molecular genetics of head and neck cancers, continued study of multiple genes is critical for further progress. Gene therapy, although promising, must also overcome this complexity.

Download Full-text

Perioperative mortality of head and neck cancers

BMC Cancer ◽

10.1186/s12885-021-07998-z ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Yannan Wang ◽

Mengxue Wang ◽

Yan Tang ◽

Bincan Sun ◽

Kai Wang ◽

...

Keyword(s):

Head And Neck Cancer ◽

Head And Neck ◽

Neck Cancer ◽

Cardiopulmonary Arrest ◽

Clinical Stage ◽

Maxillofacial Surgery ◽

Head And Neck Cancers ◽

Oral And Maxillofacial Surgery ◽

Perioperative Mortality ◽

Advanced Clinical Stage

Abstract Background Head and neck cancers are aggressive cancers, most clinical studies focused on the prognosis of patients with head and neck cancer. However, perioperative mortality was rarely mentioned. Methods A retrospective analysis was performed using all head and neck cancer patients admitting in the Department of Oral and Maxillofacial Surgery of the Second Xiangya Hospital, Central South University from January 2010 to December 2019. The analysis of overall survival and progression-free survival were performed using the Kaplan–Meier method, and cross tabulation with chi-squared testing was applied to analyze the difference in parameters between groups. Results From January 2010 to December 2019, a total of 6576 patients with head and neck cancers were admitted to our department and 7 died in the hospital, all of whom were middle-aged and elderly patients including 6 males and 1 female. The perioperative mortality rate (POMR) was about 1‰. The causes of death included acute heart failure, rupture of large blood vessels in the neck, hypoxic ischemic encephalopathy due to asphyxia, respiratory failure and cardiopulmonary arrest. Conclusion Preoperative radiotherapy, previous chemotherapy, hypertension, diabetes, advanced clinical stage and postoperative infection are risk factors for perioperative mortality of head and neck cancer.

Download Full-text

Postoperative Radiotherapy in Head and Neck Cancer

Otorhinolaryngology Clinics - An International Journal ◽

10.5005/jp-journals-10003-1016 ◽

2010 ◽

Vol 2 (1) ◽

pp. 43-51

Author(s):

Vedang Murthy ◽

Sayan Kundu ◽

Tanweer Shahid ◽

Ashwini Budrukkar ◽

Tejpal Gupta ◽

...

Keyword(s):

Head And Neck Cancer ◽

Targeted Therapy ◽

Head And Neck ◽

Neck Cancer ◽

Early Stage ◽

Postoperative Radiotherapy ◽

Locally Advanced ◽

Head And Neck Cancers ◽

Advanced Head ◽

Locoregional Failure

Abstract Though early stage head and neck cancers can be cured either by surgery or radiation, patients with locally advanced disease continues to pose a therapeutic challenge. Locoregional failure is the major cause of death in head and neck cancers. As the outcome of locally advanced head and neck cancer is less than promising, a combined modality approach is generally undertaken in this group of patients. The combination of surgery, radiation and more recently, chemotherapy and targeted therapy can improve outcomes in locally advanced head and neck cancer patients. This overview discusses the rationale and role of postoperative radiotherapy (PORT) in advanced head and neck cancers, the radiotherapy technique in brief and methods of enhancing the efficacy of postoperative RT by altering the fractionation schedules and adding chemotherapy and targeted therapy.

Download Full-text

Times to Diagnosis, Staging, and Treatment of Head and Neck Cancer Before and During COVID-19

OTO Open ◽

10.1177/2473974x211059429 ◽

2021 ◽

Vol 5 (4) ◽

pp. 2473974X2110594

Author(s):

Peter Yao ◽

Victoria Cooley ◽

William Kuhel ◽

Andrew Tassler ◽

Victoria Banuchi ◽

...

Keyword(s):

Head And Neck Cancer ◽

Head And Neck ◽

Neck Cancer ◽

Medical Center ◽

Academic Medical Center ◽

Head And Neck Cancers ◽

Newly Diagnosed ◽

Time To Treatment ◽

Time To Diagnosis ◽

The Times

Objective The coronavirus disease 2019 (COVID-19) pandemic has reduced the demand for, and supply of, head and neck cancer services. This study compares the times to diagnosis, staging, and treatment of head and neck cancers before and during the COVID-19 pandemic. Study Design Retrospective cohort study. Setting Tertiary academic medical center in New York City (NYC). Methods The times to diagnosis, staging, and treatment of head and neck cancer for patients presenting to the clinics of 4 head and neck oncology surgeons with newly diagnosed head and neck cancers were compared between pre–COVID-19 and COVID-19 periods. Results Sixty-eight patients in the pre–COVID-19 period and 26 patients in the COVID-19 period presented with newly diagnosed head and neck cancer. Patients in the COVID-19 group had a significantly longer time to diagnosis than the pre–COVID-19 group after adjustment for age and cancer diagnosis ( P = .02; hazard ratio [HR], 0.54; 95% CI, 0.32-0.92). Patients in the pre–COVID-19 and COVID-19 groups had no statistically significant differences in time to staging ( P > .9; HR, 1.01; 95% CI, 0.58-1.74) or time to treatment ( P = .12; HR, 1.55; 95% CI, 0.89-2.72). Conclusion This study found that time to diagnosis for head and neck cancers was delayed during a COVID-19 period compared to a pre–COVID-19 period. However, there was no evidence of delays in time to staging and time to treatment during the COVID-19 period. Our results prompt further investigations into the factors contributing to diagnostic delays but provide reassurance that despite COVID-19, patients were receiving timely staging and treatment for head and neck cancers.

Download Full-text

Filipino head and neck cancer patients and their quality of life

International Journal of Otorhinolaryngology and Head and Neck Surgery ◽

10.18203/issn.2454-5929.ijohns20200540 ◽

2020 ◽

Vol 6 (3) ◽

pp. 439

Author(s):

Frederic Ivan L. Ting ◽

Aylmer Rex B. Hernandez ◽

Reno Eufemon P. Cereno ◽

Irisyl B. Orolfo-Real ◽

Corazon A. Ngelangel

Keyword(s):

Quality Of Life ◽

Head And Neck Cancer ◽

Head And Neck ◽

Cancer Patients ◽

Neck Cancer ◽

The Philippines ◽

Head And Neck Cancers ◽

The Social ◽

The University

Background: In the management of head and neck cancer (HNC), assessment of quality of life (QoL) is imperative because of the potentially debilitating effect of treatment toxicities. Currently, there are no published data assessing the QoL in Filipino HNC patients, thus this study.Methods: This cross-sectional study utilized the University of the Philippines - Department of Health Quality of Life scale. Patients with head and neck cancers at the University of the Philippines - Philippine General Hospital from February to September 2019 were invited to participate. Results: A total of 418 patients were included in the study with a mean age of 42 years old (range 18 to 73 years old). In general, Filipino head and neck cancer patients had moderate QoL (mean score of 4.59±0.79). All of the QoL domains (physical, emotional, cognitive, and related functions) had a score of 3-5 (moderate), except for the social status domain which had a mean score of 5.51±0.83 (high). Among socio-demographic factors, patients who are employed and with additional funding sources on top of their income have better global QoL (p<0.01). Clinically, patients with higher stages of disease, fungating tumors, post-laryngectomy, have a feeding tube, with a tracheostomy, and had chemotherapy have lower global QoL (p<0.01).Conclusions: Filipino patients with head and neck cancers have an overall moderate quality of life, with high scores in the social domain. Patients with higher tumor burdens and have been exposed to chemotherapy have lower QoL scores, while patients with financial stability and aid have better QoL scores.

Download Full-text