Detection of head and neck squamous cell carcinoma among exfoliated oral mucosal cells by microsatellite analysis

Prompt detection of head and neck squamous cell carcinoma (HNSCC) is vital to successful patient management. In this feasibility study, we used micros atellite analysis to detect tumor-specific genetic alterations in exfoliate d oral mucosal cell samples from patients with known cancer. Exfoliated muc osal cells in pretreatment oral rinse and swab samples were collected from 44 HNSCC patients and from 43 healthy control subjects (20 nonsmokers and 2 3 smokers). We tested a panel of 23 informative microsatellite markers to a ssay DNA from the matched lymphocyte, tumor (from cancer cases), and oral t est samples. Loss of heterozygosity or microsatellite instability of at lea st one marker was detected in 38 (86%) of 44 primary tumors. Identical alte rations were found in the saliva samples in 35 of these 38 cases (92% of th ose with markers; 79% overall) including 12 of 13 cases with small primarie s [stage T, or T, (occult primary)l and 4 of 4 cases of patients that had u ndergone prior radiation. Microsatellite instability was detectable in the saliva in 24 (96%) of 25 cases in which it was present in the tumor, and lo ss of heterozygosity was identified in the test sample in 19 (61%) of 31 ca ses. No microsatellite alterations were detected in any of the samples from the healthy control subjects. This approach must now be refined and valida ted for the detection of clinically occult disease, Microsatellite analysis of oral samples may then become a valuable method for detecting and monito ring HNSCC.