Clinical relevance of nine transcriptional molecular markers for the diagnosis of head and neck squamous cell carcinoma in tissue and saliva rinse

For a period of two years, we systematically collected tumor tissue, normal matched mucosa and saliva of patients diagnosed with primary untreated HNSCC. Expression levels of the nine genes of interest were measured by RT-qPCR in tumor and healthy matched mucosa from 46 patients. MMP1 expression level was measured by RT-qPCR in the salivary rinse of 51 HNSCC patients and 18 control cases.Dysregulation of the nine genes was confirmed by the Wilcoxon test. IL1RN, MAL and MMP1 were the most efficient diagnostic markers of HNSCC, with ROC AUC > 0.95 and both sensitivity and specificity above 91%. No clinically relevant correlation was found between gene expression level in tumor and T stage, N stage, tumor grade, global survival or disease-free survival. Our preliminary results suggests that with 100% specificity, MMP1 detection in saliva rinse is potentially useful for non invasive diagnosis of HNSCC of the oral cavity or oropharynx, but technical improvement is needed since sensitivity was only 20%.IL1RN, MAL and MMP1 are prospective tumor diagnostic markers for HNSCC. MMP1 overexpression is the most promising marker, and its detection could help identify tumor cells in tissue or saliva.Head and neck squamous cell carcinoma (HNSCC) is the sixth most common malignancy worldwide and every year an estimated 600,000 people are newly diagnosed. HNSCC accounts for about 10% of the total cancer burden in men [1]. It is often diagnosed at late stages in heavy alcohol and tobacco users and patients presenting advanced disease have a short overall survival with major post-therapeutic side effects. Despite ongoing efforts, no molecular markers have yet been validated as useful clinical tools for the early detection and management of this disease. Recently, the transcriptome of HNSCC was extensively probed by several groups using expression microarray technology. The goals were to identify the genes potentially involved in this pathology and to identify diagnostic and/or prognost