Abstract
Casestudy
A 65-year-old woman with a known history of anogenital extramammary Paget disease presented with a pedunculated lesion arising from the vulvar vestibule near the urethral meatus, discovered during a routine surveillance exam.
Results
Biopsy of the lesion revealed an adenocarcinoma with villoglandular architecture and pseudostratified columnar epithelium with goblet cells that is arising in direct continuity with the uninvolved squamous mucosa. In addition to the villoglandular component, an area of dyscohesive cells with signet ring morphology within a mucinous background was present. Biopsy of a lesion inferior to the index mass showed Paget disease with similar morphology to the invasive adenocarcinoma. By immunohistochemistry (IHC), the invasive adenocarcinoma was diffusely positive for CK20, CK7, and CDX-2 with patchy staining for p16. Metastasis was excluded by colonoscopy, mammography, and PET-CT. Additional IHC stains for GCDFP-15, GATA-3, PAX-8, S100, p63, and PSA were all negative on subsequent biopsies performed for mapping the extent of disease. These features supported a diagnosis of primary intestinal-type adenocarcinoma of the vulva and pointed to this tumor as a source of her Paget disease.
Conclusion
Primary intestinal-type adenocarcinomas of the vulva are extremely rare with only a small number of case reports in the literature. It is suggested that these tumors acquire a colorectal phenotype due to the cloacal origin of the vulvar vestibule. No standard treatment approach has been developed due to the rarity of this disease, but the majority of reported cases have had an indolent course. To the best of our knowledge, other than this case, there is only a single additional case report in the literature of secondary Paget disease arising from this tumor type. We underscore the propensity of this tumor to cause secondary Paget disease, mimicking spread from a colorectal primary site.