Ali M Al-Amri1, Chittibabu Vatte2, Cyril Cyrus2, Shahanas Chathoth2, Tariq Mohammad Hashim3, Yehia S Mohamed4, Rudaynah Al Ali1, Abir Alsaid1, Amein Al Ali2. 1. Department of Internal Medicine, King Fahd Hospital of the University, University of Dammam, Al-Khobar, Kingdom of Saudi Arabia. 2. Institute for Research & Medical Consultation, University of Dammam, Dammam, Kingdom of Saudi Arabia. 3. Department of Pathology, King Fahd Hospital of the University, University of Dammam, Al-Khobar, Kingdom of Saudi Arabia. 4. Department of Microbiology, University of Dammam, Dammam, Kingdom of Saudi Arabia.
Abstract
BACKGROUND: HNSCC is the sixth most common human cancer globally. In Saudi Arabia, HNSCC accounts for seven percent of all newly diagnosed cancer cases. The PIK3CA is one of the most commonly mutated oncogene in human malignancies, including HNSCC. OBJECTIVE: The objective of this study is to identify mutations in exon 9 and exon 20 of the PIK3CA gene among Saudi HNSCC patients, determine the frequency of these mutations and correlate with clinical and pathological findings. METHODS: Histopathologically confirmed paraffin embedded HNSCC tumor tissues from 48 patients were obtained. Capillary sequencing method was used to sequence exons 9 and 20 of the PIK3CA gene. Concurrently, the expression analysis of the PIK3CA and PTEN genes were performed using real-time PCR. RESULTS: Sixty percent of the samples studied were of pharyngeal cancer. A total of seven mutations were identified in exons 9 and 20 of the PIK3CA gene in 14 HNSCC tumor tissue specimens. The seven mutations encompassed one hot spot mutation E542K, a common mutation T1025T and the five novel mutation comprising three missense and two silent mutations. Interestingly, eight out of the 14 samples with a mutation were of patients with pharyngeal cancer. CONCLUSION: PIK3CA gene plays a crucial role in carcinogenesis in general and HNSCC in particular. The identification of five novel mutations suggest that Saudis may have different frequencies of somatic genetic alterations that may influence HNSCC compared to other populations.
BACKGROUND: HNSCC is the sixth most common humancancer globally. In Saudi Arabia, HNSCC accounts for seven percent of all newly diagnosed cancer cases. The PIK3CA is one of the most commonly mutated oncogene in humanmalignancies, including HNSCC. OBJECTIVE: The objective of this study is to identify mutations in exon 9 and exon 20 of the PIK3CA gene among Saudi HNSCC patients, determine the frequency of these mutations and correlate with clinical and pathological findings. METHODS: Histopathologically confirmed paraffin embedded HNSCC tumor tissues from 48 patients were obtained. Capillary sequencing method was used to sequence exons 9 and 20 of the PIK3CA gene. Concurrently, the expression analysis of the PIK3CA and PTEN genes were performed using real-time PCR. RESULTS: Sixty percent of the samples studied were of pharyngeal cancer. A total of seven mutations were identified in exons 9 and 20 of the PIK3CA gene in 14 HNSCC tumor tissue specimens. The seven mutations encompassed one hot spot mutation E542K, a common mutation T1025T and the five novel mutation comprising three missense and two silent mutations. Interestingly, eight out of the 14 samples with a mutation were of patients with pharyngeal cancer. CONCLUSION:PIK3CA gene plays a crucial role in carcinogenesis in general and HNSCC in particular. The identification of five novel mutations suggest that Saudis may have different frequencies of somatic genetic alterations that may influence HNSCC compared to other populations.
Entities:
Keywords:
HNSCC; PIK3CA; PTEN; gene expression; mutation; pharyngeal cancer
Authors: Chittibabu Vatte; Ali Mohammed Al Amri; Cyril Cyrus; Shahanas Chathoth; Ahmed Alsayyah; Arafat Ahmad; Mohammed Shakil Akhtar; Nada Fehaid Alrashidi; Nithya Jayaseeli; Hamed Al Wadani; Alhussain Al Zahrani; Amein Kadhem Al Ali Journal: Oncol Lett Date: 2019-07-04 Impact factor: 2.967
Authors: Shahanas Chathoth; Mona H Ismail; Chittibabu Vatte; Cyril Cyrus; Zhara Al Ali; Khandaker Ahtesham Ahmed; Sadananda Acharya; Aisha Mohammed Al Barqi; Amein Al Ali Journal: BMC Med Genet Date: 2018-11-20 Impact factor: 2.103
Authors: Chittibabu Vatte; Ali M Al-Amri; Cyril Cyrus; Shahanas Chathoth; Abdulla Alsulaiman; Ahmed Al Sayyah; Amein Al-Ali Journal: Transl Cancer Res Date: 2019-08 Impact factor: 1.241