Extramammary Paget's disease of the groin with underlying carcinoma and fatal outcome

Abstract

Extramammary Paget's disease (EMPD) is considered to be an intraepithelial adenocarcinoma. Typically involved anatomical sites are the vulvar, perianal, perineal, scrotal and penile regions. Clinically, the lesions present as well-defined, moist, erythematous plaques usually accompanied by pruritus. An unusual feature of EMPD is its association with cutaneous, adnexal-structure adenocarcinomas and its association with internal malignancies. Histopathological examination shows epidermal acanthosis and elongated rete ridges. Paget's cells are large intraepidermal cells with a large nucleous and abundant pale cytoplasm. Recent studies of perianal and vulvar EMPD have described distinct immunohistochemical subtypes termed cutaneous and endodermal. Cutaneous EMPD is characteristically positive for cytokeratin (CK)7, negative for CK20, and positive for gross cystic disease fluid protein (GCDFP)15+, whereas endodermal EMPD shows a CK7+ CK20+ GCDFP15- phenotype. Surgery remains the treatment of choice, with either wide surgical excision or Mohs' micrographic surgery. We present a case of EMPD with an underlying carcinoma, which combined immunohistochemical findings suggestive of the cutaneous subtype (positive for CK7, GCDFP15, mucin (MUC)1, human epidermal growth factor receptor (HER)2/neu positive) and the endodermal subtype, frequently associated with internal malignancy (CK20, MUC2, CDX-2 positve); however, our patient had no associated internal malignancy.

Apocrine Carcinoma of the Groin Possibly Associated with Extramammary Paget's Disease

“…In some cases, EMPD represents a de novo adenocarcinoma that arises in the epidermis in situ , and in other cases EMPD represents epidermotropic metastasis or a direct extension of an associated internal malignancy8. In this regard, recent studies concerning perianal and vulvar EMPD have revealed cutaneous (primary) and endodermal (secondary) immunohistochemical subtypes of EMPD4. In the case of our patient, the immunohistochemical examination revealed a pattern similar to cutaneous EMPD; the tumor cells were positive for CK7 and GCDFP-15 but negative for CK20.…”

“…In this case, they found lymph node infiltration of the adenocarcinoma. Finally, in the case of Pascual et al4, Paget and dermal tumor cells were negative for S-100, HMB-45, and prostate-specific antigen but positive for periodic-acid-Schiff, CEA, CK7, CK20, GCDFP-15, mucin 1 and mucin2, human epidermal growth factor receptor2/neu and caudalrelated homeobox-2. Because of the CK20 positivity, they concluded that their case showed combined immunohistochemical findings suggestive of the cutaneous subtype and the endodermal subtype of EMPD with no associated internal malignancy.…”

Clinicopathologic characteristics of extramammary Paget’s disease of the scrotum associated with sweat gland adenocarcinoma—a clinical retrospective study

“…Cutaneous EMPD was characteristically positive for cytokeratin (CK)7, negative for CK20, and positive for gross cystic disease fluid protein (GCDFP) 15þ, whereas endodermal EMPD showed a CK7þ, CK20þ, GCDFP-15 phenotype. 7 In the current study, the immunohistochemistry of four patients of scrotal Paget's disease with sweat gland adenocarcinoma showed CEAþ, GCDFP-15þ, Her-2 AEwþþþ. We suggest sweat gland adenocarcinoma was the development and metastasis of scrotal Paget's disease.…”

Human epidermal growth factor receptor 2 protein overexpression and gene amplification in extramammary Paget disease

“…Although EMPD can arise in any region of the skin and mucosa, most cases are detected in the regions rich in apocrine glands, such as the genital regions and axillae 2 . The origin of EMPD remains a subject of controversy, but some investigators have suggested that it is an intraepithelial malignancy of apocrine origin 3 …”