Vulval intestinal/enteric heterotopia with a 10-yr follow-up: a case report and review of the literature

Abstract

The occurrence of ectopic intestinal/enteric-type epithelium at the vulva is a rare entity sometimes mimicking intraepithelial neoplasia or malignant disease. Here, we report a case of an 82-yr-old woman with a long-standing (10 yr) white papillary lesion with some reddish areas at her left labium, extending into the vaginal introitus. Biopsy reports revealed colonic-type glandular epithelium with positive immunostaining against CDX-2, p53, CK 7, and CEA, whereas staining against estrogen and progesterone receptor, mammoglobin, GCDFP-15, and CK 20 was reported to be negative. A follow-up of 10 yr appeared uneventful. The occurrence of celomic-type glandular epithelium at the vulva may represent the result of dysontogenetic replacement of embryonic stem cells, which undergo mucinous differentiation. Thus, the proper diagnostic term may be glandular heterotopia. Although some lesions, especially in the proximity to orthotopic vulval glands, may be of metaplastic origin. Immunohistochemical staining patterns (CEA, CK 7 positive, and CK 20 negative) indicate an intestinal/enteric phenotype (i.e. intestinal/enteric heterotopia). Because of the reported increased risk of malignant transformation of glandular vulval lesions, close clinical follow-up is recommended.