Abstract
High recurrence rates and poor survival rates for late stage/advanced temporal bone squamous cell carcinoma with the standard treatments continues to be a significant challenge to otolaryngologists. Targeted therapy for temporal bone squamous cell carcinoma after relapse has not been reported. Here we present a 58-year-old man who was diagnosed with recurrent temporal bone squamous cell carcinoma and treated with a regimen developed using whole exome sequencing. Somatic mutations in genes encoding catenin beta 1 and vascular endothelial growth factor receptor 2 were identified in the patient’s tumor sample compared to the normal tissue. The patient was then treated with Bevacizumab in combination with pemetrexed. After two weeks of treatment, tumor volume was reduced by 95% measured by MRI, and the Visual Analogue Scale headache scores went down from 10/10 to 2/10. Our results reveal novel gene mutations of temporal bone squamous cell carcinoma and demonstrate, for the first time, an effective targeted therapy for temporal bone squamous cell carcinoma. The successful treatment regimen of bevacizumab and pemetrexed may provide a new treatment option for treating recurrent temporal bone squamous cell carcinoma that fails to respond to conventional tumor resection, radiotherapy, and/or chemotherapy.
Highlights
Temporal bone squamous cell carcinoma (TBSCC) is uncommon, accounting for fewer than 0.2% of all tumors of the head and neck with an incidence of 1 to 6 per one million [1]
We report the first exceptional therapeutic response to bevacizumab targeted therapy in combination with pemetrexed chemotherapy in a multiply recurrent TBSCC with genetically confirmed vascular endothelial growth factor receptor 2 (VEGFR-2) and catenin beta 1 (CTNNB1) mutation
To detect the gene expression level of VEGFR-2 and its ligand vascular endothelial growth factor(VEGF), quantitative real time PCR on mRNA extracted from both tumor and normal tissues was carried out, and results showed significant overexpression of both VEGF and VEGFR-2 genes in the tumor tissue compared to the normal tissue (Figure 3)
Summary
Temporal bone squamous cell carcinoma (TBSCC) is uncommon, accounting for fewer than 0.2% of all tumors of the head and neck with an incidence of 1 to 6 per one million [1]. A patient diagnosed with TBSCC had received resection of left temporal bone followed by radiotherapy and chemotherapy. He presented with a recurrence of TBSCC three months after surgical treatment. To detect the gene expression level of VEGFR-2 and its ligand vascular endothelial growth factor(VEGF), quantitative real time PCR on mRNA extracted from both tumor and normal tissues was carried out, and results showed significant overexpression of both VEGF and VEGFR-2 genes in the tumor tissue compared to the normal tissue (Figure 3) Based on these findings, we carefully screened currently available targeted drugs that may potentially be used for treatment of head and neck cancers. Long-term follow-up care has been established for the patient
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