Human papillomavirus testing and molecular markers of cervical dysplasia and carcinoma

Cervical cancer is the second most common cancer in women worldwide. Human papillomavirus (HPV) is the etiologic agent for the vast majority of premalignant and malignant lesions, and high-risk HPV types can be detected in almost all cases of cervical dysplasia and carcinoma. HPV testing has been widely adopted for the triage of patients after a cervical cytology screening test (Papanicolaou smear or liquid-based cervical cytology such as ThinPrep or SurePath) interpretation of atypical squamous cells of undetermined significance (ASCUS), and HPV testing is increasingly used for screening in conjunction with cervical cytology. Although cervical cytology is a highly effective screening test for cancer, it has limited specificity for clinically significant lesions in cases with low-grade cytologic abnormalities. Up to a quarter of all patients may have a false-negative result on the basis of cervical cytology testing alone. This review focuses on HPV testing methods and molecular markers and their clinical relevance. HPV testing and surrogate molecular markers of HPV infection (p16INK4a) may help identify cases that are associated with underlying high-grade premalignant or malignant lesions and may also reduce aggressive treatment of patients with low-grade lesions.