Abstract

Differentiated vulvar intraepithelial neoplasia (dVIN) is a precursor lesion of HPV-independent vulvar squamous cell carcinoma (VSCC). The histology of dVIN lesions is difficult to differentiate from that of other non-neoplastic epithelial disorders. Thus, less than 5% of dVIN cases are diagnosed before progression to VSCC. Due to dVIN’s rapid progression to malignancy and ambiguous histological presentation, there is a need for a better diagnostic assay.  

Chromosomal microarray (CMA) is a whole-genome assay for detecting copy number aberrations (CNV) of target genes. Previous studies demonstrate that CMA can accurately identify CNV in various cancers, which can aid in diagnosis. In this preliminary study, we present data on the ancillary use of CMA as a novel assay that could aid in diagnosing dVIN. 18 samples of vulvar skin were assessed for CNV by CMA. (p= 0.05). For the study, any cases suspicious for d-VIN or compatible with dVIN, were regarded as d-VIN. All inflammatory cases were regarded as normal. Six out of the 12 (50%) dVIN cases were determined to have CNV when assessed by CMA. Importantly, none of the benign cases had CNV. In this limited series, the finding of any CNV was 100% specific and 50% sensitive for dVIN. Our preliminary data indicates that the detection of CNV by CMA may function as a novel assay to aid in dVIN diagnosis. Additional research on a larger cohort is underway. If reproduced and further validated, the findings indicate that the detection of CNV by CMA may provide useful data for diagnosing dVIN.