Gain of the 3q26 region in cervicovaginal liquid-based pap preparations is associated with squamous intraepithelial lesions and squamous cell carcinoma

Background: Chromosomal aberrations have been documented in cervical carcinomas, especially chromosome 3q. The human telomerase RNA gene (hTERC) is located in the chromosome 3q26 region, and its product, telomerase, is involved in the maintenance of chromosome length and stability. Upregulation of telomerase is in general associated with tumorigenesis. In this study, cervicovaginal specimens were analyzed by fluorescence in situ hybridization (FISH) for gain of chromosome 3q26 containing hTERC, and FISH findings were compared with the cytologic and histologic diagnoses. Methods: Slides prepared from 66 liquid-based preparations from cervical specimens with cytologic diagnoses of negative for squamous intraepithelial lesion or malignancy (NILM, n = 4), atypical squamous cells of undetermined significance (ASC-US, n = 15), low-grade squamous intraepithelial lesion (LSIL, n = 20), high-grade squamous intraepithelial lesion (HSIL, n = 24), or cervical squamous cell carcinoma (SCCA, n = 3) were analyzed for aberrations of 3q26 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-detected 3q26 abnormalities. The Wilcoxon rank-sum test was used to assess associations between 3q26 gains and diagnoses. Results: Gain of 3q26 was significantly associated with the cytologic diagnosis (p < 0.0001). Patients with HSIL or SCCA cytology diagnoses had significantly higher percentages of cells with 3q26 gain than did patients with NILM or ASC-US cytologic diagnoses. Conclusions: FISH can be performed on cervicovaginal liquid-based preparations to detect gain of 3q26. Gain of 3q26 is associated with HSIL and SCCA. This test may be an adjunct to cytology screening, especially high-risk patients.