Abstract
BackgroundThe characteristics of head and neck squamous cell carcinoma (HNSCC) across different anatomic sites in the Chinese population have not been studied. To determine the genomic abnormalities underlying HNSCC across different anatomic sites, the alterations of selected cancer-related genes were evaluated.MethodsGenomic DNA samples obtained from formalin-fixed, paraffin-embedded tissues were analyzed using targeted sequencing in a panel of 383 cancer-related genes to determine the genomic alterations.ResultsA total of 317 formalin-fixed, paraffin-embedded HNSCC specimens were collected, and a total of 2,156 protein-coding mutations, including 1,864 single nucleotide variants and 292 insertions and deletions, were identified across more than six different anatomic sites. Mutation loads were distinct across the anatomic sites. Larynx carcinoma was found with the highest mutation loads, whereas nasopharynx carcinoma showed the lowest mutation loads. A total of 1,110 gains and 775 losses were identified in the 317 specimens. Patients who had at least one clinically actionable alteration (levels 1–4 in OncoKB) were identified. One patient had an actionable alteration with level 1 evidence in OncoKB, TEX10-NTRK2 fusion, who may benefit from larotrectinib or entrectinib treatment.ConclusionThe genomic profiling of HNSCC using targeted sequencing can identify rational therapeutic candidate genes suitable for the treatment of the HNSCCs.
Highlights
Head and neck squamous cell carcinoma (HNSCC), the main type of malignancy in the head and neck, arises from the mucosal surfaces of the mouth, salivary glands, pharynx, larynx, nasal cavity, and paranasal sinuses, accounting for more than 90% of head and neck malignancies, and is the sixth most common malignant tumors in the world (Bray et al, 2018)
HNSCCs are well recognized as a challenging class of tumors to treat. Radiation, and chemotherapy, such treatments for HNSCC can result in cosmetic deformity and functional impairment of vital functions, and >50% of HNSCC patients die from this disease (Bray et al, 2018) with a 5-year survival rate of only approximately 50% (Leemans et al, 2011)
According to the anatomic sites, the present cohort consisted of patients with paranasal sinus carcinoma (n = 4), nasopharyngeal carcinoma (NPC) (n = 83), larynx carcinoma (LC, n = 60), oral cavity carcinoma (OCC, n = 111), hypopharynx carcinoma (HPC, n = 36), oropharynx carcinoma (n = 7), and 16 with unknown anatomic sites
Summary
Head and neck squamous cell carcinoma (HNSCC), the main type of malignancy in the head and neck, arises from the mucosal surfaces of the mouth, salivary glands, pharynx, larynx, nasal cavity, and paranasal sinuses, accounting for more than 90% of head and neck malignancies, and is the sixth most common malignant tumors in the world (Bray et al, 2018). Human papillomavirus, human papillomavirus type 16 infection, and Epstein–Barr virus infection are the risk factors for different types of HNSCCs derived from various anatomic sites (Niedobitek, 2000; Hashibe et al, 2006; Boffetta et al, 2008; Gandini et al, 2008; Chaturvedi et al, 2011; Young and Dawson, 2014; Yoshizaki et al, 2018). Despite the approval of cetuximab (Vermorken et al, 2007, 2008), a monoclonal antibody against epidermal growth factor receptor, the survival rates of HNSCC have improved very little over the past 40 years (Stransky et al, 2011; Du et al, 2019). The characteristics of head and neck squamous cell carcinoma (HNSCC) across different anatomic sites in the Chinese population have not been studied. To determine the genomic abnormalities underlying HNSCC across different anatomic sites, the alterations of selected cancer-related genes were evaluated
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