Human telomerase RNA gene (TERC) gain and polysomy of chromosome 3 in cervicovaginal liquid-based pap preparations: a fluorescence in situ hybridization study

PURPOSE. This study investigated human telomerase RNA gene (TERC) gain and polysomy of chromosome 3 in cervicovaginal liquid-based pap preparations in Guilin, China, and assessed the relationship between FISH findings and clinical diagnoses. METHODS. Slides prepared from 63 liquid-based preparations with cytologic diagnoses of negative for squamous intraepithelial lesion or malignancy (NILM n = 9), atypical squamous cells of undetermined significance (ASCUS, n = 18), low-grade squamous intraepithelial lesion (LSIL, n = 14), high-grade squamous intraepithelial lesion (HSIL, n = 9), and cervical squamous cell carcinoma (SCCA, n = 13) were analyzed for TERC gain and polysomy of chromosome 3 using a commercially available two-color FISH probe. The results of the cytologic analysis and those of concurrent or subsequent biopsies, when available, were compared with the FISH findings. The Mann-Whitney test was used to assess associations between FISH findings and diagnoses. RESULTS. TERC gain and polysomy of chromosome 3 were significantly associated with the cytologic diagnosis (p? 0.001). Patients with HSIL or SCCA cytology diagnoses had a significantly higher percentage of cells with TERC gain and polysomy of chromosome 3 than did patients with NILM, ASCUS or LSIL cytologic diagnoses. Those abnormal cases with CIN1 histological diagnosis had a significantly lower percentage of cells with TERC gain and polysomy of chromosome 3 than did patients with a CIN2, CIN3 and SCCA histological diagnosis. CONCLUSIONS. TERC gain and polysomy of chromosome 3 may be important associated genetic events in cervical intraepithelial neoplasia and carcinoma. FISH is a potential tool for the diagnoses of uterine cervix disease.