Nowak M A, Guerriere-Kovach P, Pathan A, Campbell T E, Deppisch L M
Department of Pathology, Western Reserve Care System, A Division of Forum Health, Youngstown, Ohio 44501, USA.
Arch Pathol Lab Med. 1998 Dec;122(12):1077-81.
Extramammary Paget's disease most commonly occurs on the female external genitalia and rarely occurs in the perianal region and male external genitalia. We present the clinical and pathologic features of 5 cases of perianal Paget's disease and review the literature.
Clinical and pathologic data were recorded for 5 cases of perianal Paget's disease. Cases were studied retrospectively with special stains, including periodic acid-Schiff, mucicarmine, Alcian blue, carcinoembryonic antigen, S100 protein, pan-keratin, gross cystic disease fluid protein-15 (GCDFP-15), lysozyme, CD15 (Leu-M1), cytokeratin 7 (CK7), and cytokeratin 20 (CK20).
Three (60%) of 5 patients had concurrent rectal adenocarcinomas. All cases reacted positively for pankeratin, although the intensity and distribution of staining varied. Both cases not associated with an underlying carcinoma showed strong GCDFP-15 and CK7 expression and an absence of CK20 expression. The 3 cases associated with an underlying malignancy demonstrated CK7 and CK20 expression and an absence of GCDFP-15 expression. All cases were negative for lysozyme and CD15 (Leu-M1).
The 5 cases reported herein demonstrate that perianal Paget's disease is a heterogeneous entity. The high frequency of associated underlying malignancies and resultant poor clinical outcomes highlight the importance of an aggressive search for a second malignancy. In some cases, perianal Paget's disease merely represents a cutaneous manifestation of an underlying rectal adenocarcinoma and demonstrates a CK7+/CK20+/GCDFP-15-/lysozyme-/Leu-M1- immunophenotype and signet ring Paget's cells. Other cases represent primary adenocarcinomas of the skin, which are associated with a CK7+/CK20-/GCDFP-15+/lysozyme /Leu-M1- immunophenotype and an excellent prognosis if adequately resected. Immunohistochemical studies, particularly CK20 and GCDFP-15, are useful adjuncts in distinguishing primary and secondary perianal Paget's disease.
乳腺外佩吉特病最常见于女性外生殖器，很少发生于肛周区域和男性外生殖器。我们报告5例肛周佩吉特病的临床和病理特征并复习相关文献。
记录5例肛周佩吉特病的临床和病理数据。采用特殊染色对病例进行回顾性研究，包括过碘酸-希夫染色、黏液卡红染色、阿尔辛蓝染色、癌胚抗原、S100蛋白、泛角蛋白、大囊性病液蛋白-15（GCDFP-15）、溶菌酶、CD15（Leu-M1）、细胞角蛋白7（CK7）和细胞角蛋白20（CK20）。
5例患者中有3例（60%）合并直肠腺癌。所有病例的泛角蛋白染色均呈阳性，尽管染色强度和分布有所不同。2例无潜在癌的病例显示GCDFP-15和CK7强表达，且无CK20表达。3例合并潜在恶性肿瘤的病例显示CK7和CK20表达，且无GCDFP-15表达。所有病例的溶菌酶和CD15（Leu-M1）均为阴性。
本文报告的5例病例表明，肛周佩吉特病是一种异质性疾病。相关潜在恶性肿瘤的高发生率及由此导致的不良临床结局凸显了积极寻找第二种恶性肿瘤的重要性。在某些情况下，肛周佩吉特病仅仅是潜在直肠腺癌的一种皮肤表现，表现为CK7+/CK20+/GCDFP-15-/溶菌酶-/Leu-M1-免疫表型及印戒样佩吉特细胞。其他病例则代表皮肤原发性腺癌，其免疫表型为CK7+/CK20-/GCDFP-15+/溶菌酶-/Leu-M1-，如果切除充分，预后良好。免疫组织化学研究，尤其是CK20和GCDFP-15，有助于鉴别原发性和继发性肛周佩吉特病。
