Perianal Paget's Disease Co-Associated with Anorectal Adenocarcinoma: Primary or Secondary Disease

Abstract

Perianal Paget's disease (PPD) represents a skin neoplasm which can be either primary or secondary to carcinoma from an adjacent internal organ. PPD with underlying colorectal adenocarcinoma is usually looked upon as a secondary disease. We report a rare case of co-associated PPD and anorectal adenocarcinoma. The PPD was found to be located near the anorectal adenocarcinoma with normal tissues between them. Immunohistochemical stains demonstrated that the Paget's cells were CK7+/GCDFP-15-/CK20-/MUC2-/CDX2-, whereas the anorectal adenocarcinoma was shown to be CK7+/GCDFP-15-/CK20+/MUC2+/CDX2+. This immunological phenotypic profile supported the notion that PPD and anorectal adenocarcinoma were of different origins, but could not define the exact origins of PPD. In our determination, this case was a primary PPD with anorectal adenocarcinoma. PPD remains a heterogeneous and complex pathology, and additional studies are required to differentiate between the various possible origins.

Perianal Paget’s disease: a clinicopathological and immunohistochemical study of 13 cases

“…Up to 60% of PPD were associated with underlying malignancies [5,6], in which the Paget's cells represent intraepithelial spread of an existing dermal adnexal or visceral adenocarcinoma [7,8]. Thus, the findings of PPD should prompt diligent search for an underlying malignancy [9][10][11][12]. The new WHO book classifies anal adenocarcinomas as primary if arising from mucosal glandular epithelium, which shares the same immunoprofile as colorectal adenocarcinoma (CK7+/−, CK20+/CDX2+), or from anal glands, which shares the same immunoprofile as skin adnexal carcinoma (CK7+/CK20−/CDX2-) [13].…”

“…Thus, proper diagnosis relies not only on immunoprofile, but also clinical information and macroscopic tumor location [14,15]. PPD has been rarely described in literatures as single case report or small case series [9,[16][17][18]]. Yet, much is still unknown due to its rarity.…”

Anal gland adenocarcinoma in situ with pagetoid spread: a case report

“…Primary PPD originates from the epidermis or skin appendages, including the eccrine glands, apocrine glands, ectopic mammary-like glands, and epidermal pluripotent stem cells. Secondary PPD, also known as pagetoid phenomenon, is a metastatic tumor derived from underlying carcinoma cells [ 1 ]. Immunohistochemical staining for GCDFP15, CDX2, CK7, and CK20 are especially useful in differentiating the type and the origins of EMPD.…”

“…There are two types of PPD: primary and secondary. When an underlying adenocarcinoma is present, PPD usually represents intraepidermal extension of an invasive carcinoma from an adjacent internal organ and is generally regarded as secondary [ 1 ].…”

Wide local excision of perianal Paget’s disease with gluteal flap reconstruction: an interdisciplinary approach

“…Biopsy and resultant histology are typically used to obtain a PPD diagnosis, along with imaging of the chest, abdomen, and pelvis to rule out metastatic disease (1)(2)(3)(4)(5)7). The preferred treatment for PPD is surgical excision of the lesion(s) (1)(2)(3)(4)(5)7). Surgical techniques that can be used to excise PPD include local excision and WLE.…”