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Background  Analysis of 23 published transcriptome studies allowed us to identify nine genes displaying frequent alterations in HNSCC ( FN1, MMP1, PLAU, SPARC ,  IL1RN, KRT4, KRT13, MAL , and  TGM3 ). We aimed to independently confirm these dysregulations and to identify potential relationships with clinical data for diagnostic, staging and prognostic purposes either at the tissue level or in saliva rinse.    Methods  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.    Results  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%.    Conclusion   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.

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