Abstract
BackgroundPerianal Paget’s disease (PPD) is rare and mostly described in clinical literature as case reports or small series.MethodsWe investigated the clinicopathologic and immunohistochemical features of PPD in a total of 13 cases retrieved from multiple academic institutions.ResultsThe median age at diagnosis was 75 (range 50–86) years. Males were predominant with a male to female ratio of 2.25:1. Four (30.8%) cases were classified as primary PPD due to lack of synchronous or metachronous underlying malignancies, while nine (69.2%) were classified as secondary PPD with concurrent invasive adenocarcinoma (n = 8) or tubular adenoma with high-grade dysplasia (n = 1). Immunohistochemically, there is no differential expression of CK7 or CK20 in Paget’s cells between primary and secondary PPD; however, GCDFP-15 was only positive in primary PPD (3/3 vs. 0/6, P = 0.012), while CDX2 was only positive in secondary PPD (0/3 vs. 7/7, P = 0.008), suggesting different cell origin. All patients received local surgical resection with or without adjuvant therapy. After a median follow-up of 47 months, one patient with secondary PPD (7.7%) died of disease progression from underlying adenocarcinoma.ConclusionsPPD occurs in elderly patients with male predominance and is frequently associated with underlying malignancies. Differential expression of CDX2 and GCDFP-15 may help distinguishing primary vs. secondary PPD, which is important for management as the presence of an underlying malignancy impacts clinical course and prognosis. Surgical excision remains the major treatment strategy for PPD. Long-term follow-up is required to monitor the disease recurrence and metastasis.
Highlights
Extramammary Paget’s disease is a rare neoplastic condition of apocrine gland-bearing regions [1, 2]
Four (4/13, 30.8%) patients presented as primary Perianal Paget’s disease (PPD) with no synchronous or metachronous underlying anorectal malignancies, while nine (9/13, 69.2%) were classified as secondary PPD due to concurrent invasive adenocarcinoma (n = 8) or tubular adenoma with high-grade dysplasia (n = 1)
While there was no differential expression of CK7, CK20, CEA, MUC1, MUC2 between primary and secondary PPD, GCDFP-15 was only positive in primary PPD (3/3 vs. 0/6, P = 0.012), while CDX2 was only positive in secondary PPD (0/3 vs. 7/7, P = 0.008)
Summary
Extramammary Paget’s disease is a rare neoplastic condition of apocrine gland-bearing regions [1, 2]. It is an indolent disease, but can recur with a recurrence rate of 44–60% [3, 4]. 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]. PPD has been rarely described in literatures as single case report or small case series [9, 16,17,18]. Perianal Paget’s disease (PPD) is rare and mostly described in clinical literature as case reports or small series
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