Wojciech K Mydlarz1, Patrick T Hennessey1, Hao Wang2, Andre Lopez Carvalho3, Joseph A Califano1,4. 1. Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland. 2. Division of Biostatistics, Johns Hopkins University School of Medicine, Baltimore, Maryland. 3. Department of Oncology, Barretos Cancer Hospital, Barretos, São Paulo, Brazil. 4. Milton J. Dance Head and Neck Center, Greater Baltimore Medical Center, Baltimore, Maryland.
Abstract
BACKGROUND: Detection of hypermethylated circulating tumor DNA has the potential to be a minimally invasive, low cost, and reproducible method for cancer detection. METHODS: We evaluated serum from 100 patients with known head and neck squamous cell carcinoma (HNSCC) and 50 healthy control patients for 3 previously described methylation targets, endothelin receptor type B (EDNRB), cyclin-dependent kinase inhibitor 2A (CDKN2A or p16), and deleted in colorectal carcinoma (DCC), using quantitative methylation specific polymerase chain reaction (qMSPCR). RESULTS: EDNRB hypermethylation was identified in the serum of 10% of the patients with HNSCC but in none of the control patients. DCC hypermethylation was detected in 2 serum samples from patients with cancer that also amplified EDNRB and one of these samples also had p16 hypermethylation. EDNRB hypermethylation was statistically significant by Fisher's exact test (p = .03) when comparing HNSCC to controls. CONCLUSIONS: Serum EDNRB hypermethylation is a highly specific but not sensitive serum biomarker for HNSCC.
BACKGROUND: Detection of hypermethylated circulating tumor DNA has the potential to be a minimally invasive, low cost, and reproducible method for cancer detection. METHODS: We evaluated serum from 100 patients with known head and neck squamous cell carcinoma (HNSCC) and 50 healthy control patients for 3 previously described methylation targets, endothelin receptor type B (EDNRB), cyclin-dependent kinase inhibitor 2A (CDKN2A or p16), and deleted in colorectal carcinoma (DCC), using quantitative methylation specific polymerase chain reaction (qMSPCR). RESULTS:EDNRB hypermethylation was identified in the serum of 10% of the patients with HNSCC but in none of the control patients. DCC hypermethylation was detected in 2 serum samples from patients with cancer that also amplified EDNRB and one of these samples also had p16 hypermethylation. EDNRB hypermethylation was statistically significant by Fisher's exact test (p = .03) when comparing HNSCC to controls. CONCLUSIONS: Serum EDNRB hypermethylation is a highly specific but not sensitive serum biomarker for HNSCC.
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