Significant Progression of Uterine Cervical Epithelial Lesion Accompanied by Marked Increase in 3q26 Gene Amplification

Patient: A 35-year-old Caucasian female Chief Complaint: Abnormal cervical smear History of Present Illness and Principal Laboratory Findings: A ThinPrep Pap Test reported atypical squamous cells of uncertain significance in November 2008. The patient tested positive for human papillomavirus type 52 (HPV-52) by polymerase chain reaction (PCR) followed by reverse dot blot. No lesions were identified on colposcopy. An automated fluorescence in situ hybridization (FISH) assay for detection of 3q gain in cervical cells (oncoFISH cervical test, Ikonisys Clinical Laboratory, New Haven, CT) was positive, showing 3 nuclei with at least 5 copies of 3q26 (Image 1). A return visit within 6 months was scheduled, but the patient did not return until 1 year later. A conventional pap smear at that time was interpreted as showing “atypical squamous cells, cannot exclude high-grade squamous intraepithelial lesion (atypical squamous cells) (HSIL [ASC-H]).” Human papillomavirus type 52 positivity persisted. A repeat oncoFISH cervical test was strongly positive, showing 264 nuclei with at least 5 copies of 3q26 gain (Image 1). Subsequent colposcopy revealed an acetowhite area, of which biopsy showed areas of cervical intraepithelial neoplasia (CIN2-CIN3) with extension into endocervical crypts. She underwent loop electrosurgical excision procedure (LEEP) conization, and histological examination confirmed the biopsy results. The surgical margins of resection were free of …