BackgroundEpidermal growth factor receptor (EGFR) is a commonly altered gene that is identified in various cancers, including head and neck squamous cell carcinoma (HNSCC). Therefore, EGFR is a promising molecular marker targeted by monoclonal antibodies and small molecule inhibitors targeting the tyrosine kinase (TK) domain.ObjectiveThe objective of this study was to investigate the spectrum of mutations in exons 18, 19, 20, and 21 of the EGFR gene in HNSCC patients.Materials and methodsThis retrospective study included 47 confirmed HNSCC cases. Mutations in the TK domain, exons 18, 19, 20, and 21 of the EGFR gene, were detected by Scorpion® chemistry and ARMS® technologies on Rotor-Gene Q real-time polymerase chain reaction.ResultsThe tumors exhibited EGFR-TK domain mutations in 57% of cases. Four cases of T790M mutations were reported for the first time among HNSCC patients. Out of the total mutations, L861Q (exon 21), exon 20 insertions and deletions of exon 19 accounted for the majority of mutations (21%, 19%, and 17%, respectively). EGFR mutation status was correlated with the higher grade (P=0.026) and advanced stage (P=0.034) of HNSCC tumors.ConclusionHigher frequency of EGFR-TK domain mutations together with the presence of the T790M mutation suggests that identification of these mutations might streamline the therapy and provide a better prognosis in HNSCC cases.
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.
Introduction:The current study aimed to describe genotypes associated with Hodgkin lymphoma (HL) in a cohort of Saudi and non-Saudi patients and discuss their possible susceptibility to HL. Methods:We studied clinical, histopathological, and laboratory findings of HL patients admitted over 12 years duration, at King Fahd University Hospital, KSA. The genomic DNAs of HL patients (n = 61) and normal control subjects (n = 36) were extracted, and genotyping was performed using the Illumina human exome bead chip.Set of HL patients and set of normal controls were included in this study.Results: A total of 35 DNA variants were found to be highly significant with the P-value <9.90 × 10 −11 among 243 345 exonic biomarkers and obeying the Hardy-Weinberg equilibrium. Nine, MEGF11-rs150945752 (P-value 1.20 × 10 −12 ), CACNA1I-s58055559 (P-value 1.93 × 10 −12 ), DECR2-rs146760080 (P-value 2.19 × 10 −12 ), STAB1-rs143894786 (P-value 2.45 × 10 −12 ), ZNF526-rs144433879 (P-value 2.76 × 10 −12 ), CPLANE1-rs200612080 (P-value 3.77 × 10 −12 ), DLK1-rs1058009 (P-value 5.95 × 10 −12 ), RTN4RL2-rs61745214 (P-value 7.71 × 10 −12 ), and PGRMC1-rs145582672 (P-value 8.56 × 10 −12 ), exonic variants on chromosomes 15, 22, and 16 were highly associated with HL cases.The highly significant haplotypes at chromosome 3: rs143894786G; rs149982219G with P-value = 3.43 × 10 −14 was found to be the risk haplotype for the HL patients.The opposite alleles at chromosome 3: rs143894786A; rs149982219G is protective with P-value = 2.46 × 10 −12 . Maximum number of SNPs at the chromosome 19: rs144433879C; rs181265966G; rs201144421C; rs145591797G; rs200560875G; rs77270337G (risk P-value = 2.24 × 10 −12 ) and its opposite allele rs144433879A; rs181265966A; rs201144421T; rs145591797A; rs200560875A; rs77270337A (protective P-value = 2.60 × 10 −9 ) were found to be associated haplotype with the HL and controls, respectively, in Saudi population. Conclusion:Our study concludes that the HL is genetically heterogeneous with multigene causation.
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