Proliferative lesion of anogenital mammary‐like glands in the setting of Cowden syndrome: case report and review of the literature

Abstract

Mammary-like glands are normal appendages of anogenital skin and can give rise to epithelial and stromal tumors that closely resemble breast tumors. Cowden syndrome is an autosomal-dominant cancer-predisposition syndrome that is associated with increased risk of various benign and malignant tumors including breast cancers. Here, we report the first case of a proliferative lesion of mammary-like glands in the setting of Cowden syndrome. A 27-year-old female with Cowden syndrome (R130Q-PTEN mutation) presented with a 1-cm tender, polypoid perianal lesion. An excisional biopsy revealed a circumscribed, lobulated lesion with fibromyxoid stroma and epithelial hyperplasia with apocrine and columnar cell changes that was arranged in papillary, micropapillary and focal cribriform architecture. The features strikingly resembled proliferative changes commonly seen in the breast. Interestingly, the patient subsequently developed an atypical complex sclerosing lesion of the breast. Given the increased risk of breast neoplasia in Cowden syndrome, and the morphologic relationship between breast glands and mammary-like glands, this case raises the possibility of an increased risk of neoplasia arising in mammary-like glands in the setting of Cowden syndrome.

Rare Fibroadenoma of the Anal Region

“…He described cutaneous glands in the anogenital region (predominantly the anus, labia and vulva), accounting for fibroadenomatous changes found beyond the extent of the milk line. While fibroadenomas are very common in the breast, there are only about 40 cases described in the anogenital region (3) and only six of which were perianal rather than vulvar (1,(4)(5)(6)(7)(8). In most instances, the anogenital lesion was a well circumscribed, solitary mass that varied in size from 0.8 to 6 cm.…”

Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome

“…In 2016, Hedayat et al reported a case of a 27-year-old woman with Cowden syndrome with a perianal lesion demonstrating proliferative changes strikingly similar to those commonly seen in breast tissue (19).…”

Cystic Presentation of High-Grade Ductal Carcinoma In Situ in an Inframammary Accessory Nipple

“…5 Certain genodermatoses (ie, Cowden syndrome) also may predispose patients to benign or malignant pathology in ABT. 6 We present a rare case of accessory breast cancer in the inframammary region masquerading as a cyst. These findings were further supported by ultrasonography and mammography.…”