Advances in the study of extramammary Paget disease
10.3760/cma.j.cn114453-20240604-00151
- VernacularTitle:乳房外佩吉特病的研究进展
- Author:
Qinglan XIA
1
;
Ran AN
1
;
Aimei ZHONG
1
Author Information
1. 华中科技大学同济医学院附属协和医院整形外科，武汉 430022
- Publication Type:Journal Article
- Keywords:
Extramammary Paget disease;
Pathogenesis;
Diagnosis;
Treatment;
Immunohistochemistry
- From:
Chinese Journal of Plastic Surgery
2025;41(10):1098-1103
- CountryChina
- Language:Chinese
-
Abstract:
Extramammary Paget disease (EMPD) is an intraepidermal adenocarcinoma that predominantly occurs in apocrine gland-rich regions such as the vulva and perianal area. It commonly presents clinically as erythematous and pruritic plaques. The disease is categorized into primary and secondary types: the former often arises from abnormal differentiation of epidermal or adnexal cells, while the latter is frequently associated with underlying malignancies of the gastrointestinal or genitourinary tracts. Differentiation between the two subtypes relies on immunohistochemical markers and endoscopic examinations. This article provides a systematic review of recent advances in the epidemiology, pathogenesis, diagnosis, and treatment of EMPD. Epidemiological studies indicate variations in incidence influenced by geographic region and gender. Research on pathogenesis has revealed potential driver mutations in genes such as ERBB2 and PIK3CA. In terms of diagnosis, the combined use of immunohistochemical markers plays a crucial role in subtype classification and differential diagnosis. Regarding treatment, Mohs micrographic surgery is the preferred option for localized lesions, while photodynamic therapy, imiquimod, and radiotherapy are applicable in selected cases. For metastatic disease, targeted therapies against HER2 and the PIK3CA/AKT pathway offer promising new directions. Comprehensive and individualized treatment strategies are essential for improving patient prognosis.
