原发性乳腺外Paget病临床病理特征

Clinicopathological Characteristics of Extramammary Paget’s Disease

目的探讨原发性乳腺外Paget病(extramammary Paget disease,EMPD)的临床病理特征。方法回顾性统计本院2013年1月-2019年9月48例原发性乳腺外Paget病的临床病理特征,进行特殊染色、免疫组化染色并分析结果。结果患者男37例,女11例,患者男女比例约为3.3∶1;年龄45~85岁,平均67.3岁。临床主要以皮肤病变为主,多累及外阴或肛周等部位,单发性皮损病例43例,比例约占90%。皮肤呈湿疹状或隆起,并可有瘙痒、疼痛和糜烂等改变。光镜下表皮全层内见Paget细胞浸润,可以为单个细胞、团巢状或腺样分布,病例中瘤细胞可浸润皮肤真皮并累及皮肤附属器,也可伴发腺癌;Paget细胞呈圆形或卵圆形,胞浆丰富且淡染或透明,核大深染,有异型。免疫组化结果显示48例标本中CK7均呈阳性,大部分P16呈阳性,CK5/6呈阴性,p63呈阴性。对34例患者进行随访,其中有6例复发。结论乳腺外Paget病发病率低,好发于男性老年人的会阴部,临床症状需要与皮肤病相鉴别。Paget细胞有特殊的形态学特点,免疫组化表型可帮助与其他表皮内肿瘤相鉴别,临床上易误诊,病理诊断与临床诊断相符率约为82%,且本病术后易复发率高,应密切随访。

Objective To study the clinicopathological characteristics of extramammary Paget’s disease(EMPD).Methods The special staining,immunohistochemical staining and clinicopathological features were analyzed in 48 cases of EMPD with review of the literature from 2013 to 2019.Results 37 cases were male and 11 patients were female.The male/female ratio was 3.3∶1.Patients aged 45 to 85 years,with average 67.3 years.Clinical findings were eczematoid lesions or neoplasm with significant pruritus and pain,forty three cases(90%)had single lesion,skin lesions commonly involving the genitals,vulvar or anus,etc.Gross pathologic examination of EMPD revealed eczema,erythema or confluent papules with exudates and erosion.Histologically,EMPD was characterized by the presence of large oval or polyhedral intraepithelial Paget cells that had pale cytoplasm and large nuclei with prominent nucleoli.Paget cells were arranged either singly or in clusters throughout the epithelium,and sometimes formed gland-like structures.Immunohistochemically,Paget cells expressed CK7 and P16 in partial cases,P63 and CK5/6 were negative.Follow-up showed 6 recurrence in 34 cases.Conclusion EMPD is a rare tumor with a male preponderance especially in perineum which has special histological features.Immunohistochemical stain can help for differential diagnosis from a variety of other intraepidermal tumor.