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Results for “Paget Disease, Extramammary”

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At least 19 recordsLinked to original sources
PubMed2026

Proteomic and metabolomic profiling reveals dysregulation of immune states, mucin-type glycosylation and steroid metabolism in extramammary Paget's disease.

BACKGROUND: Extramammary Paget's disease is a rare cutaneous adenocarcinoma characterized by mucin-rich Paget cells and chronic inflammation, yet its molecular basis remains unclear. OBJECTIVE: To systematically characterize the proteomic and metabolomic landscape of EMPD, uncover immune heterogeneity, and identify molecular pathways underlying tumor progression and microenvironment remodeling. METHODS: We performed integrated proteomic and metabolomic analyses on 92 male tumor patients and 30 healthy controls, identifying 10,217 proteins and 1466 metabolites. RESULTS: Extramammary Paget's disease lesions exhibited broad activation of inflammatory pathways. Immune profiling further uncovered substantial inflammatory heterogeneity, delineating immune-cold and immune-hot subtypes, with the latter associated with stronger invasive potential. Aberrant mucin-type glycosylation was also prominent, featuring Tn-modified MUC1 and MUC5AC accompanied by elevated GALNT7, GALNT6, GALNT4, and ST6GAL1, which correlated with inflammatory intensity. Metabolomic data demonstrated elevated levels of testosterone, dehydroepiandrosterone, and related intermediates in tumor tissues, indicating an androgen-enriched metabolic profile in extramammary Paget's disease. CONCLUSION: These findings reveal immune, glycoproteomic, and metabolomic pathways in extramammary Paget's disease pathogenesis and provide novel insights for molecular classification and therapeutic targeting.

Humans↗
PubMed2025

Clinical and molecular landscape of metastatic extramammary Paget's disease.

BACKGROUND: Extramammary Paget's disease (EMPD) is a rare malignancy without established systemic therapy. EMPD shares molecular features with breast cancer, such as human epidermal growth factor receptor 2 (HER2) and hormone receptor (HR) expression, but their clinical relevance remains unclear. MATERIALS AND METHODS: Tumors from 20 metastatic invasive EMPD cases were analyzed for molecular and biological features. Genomic features, transcriptomic profiles, and HER2 and HR expression status were investigated using immunohistochemistry, fluorescence in situ hybridization, and targeted-genome next-generation sequencing and nCounter BC360 panels. Metastatic breast cancer samples were used as a comparison to clarify metastatic EMPD's clinical relevance. RESULTS: Estrogen receptor expression was observed in 45% of EMPD tumors, while only 10% expressed progesterone receptor. HER2 was overexpressed in 30% of cases, and HER2-directed therapies were durably effective. Among 8 patients with NGS data, 63% (5/8) harbored oncogenic ERBB2 alterations independent of HER2 expression. BC360 profiling revealed biological differences between EMPD and breast cancer, particularly poor biological compatibility for HR-positive tumors. Immune profiling showed that a subset of EMPD tumors exhibited CD8+ T-cell signatures and PD-1/PD-L1 gene expression comparable to triple-negative breast cancer. The median overall survival was 22.1 months (95% CI, 12.0-42.2), with 16 patients (80%) treated with systemic therapy, including anti-HER2 therapy, hormonal therapy, or cytotoxic therapies based on their molecular features. CONCLUSIONS: This study highlights the unique molecular and biological features of metastatic EMPD, emphasizing the need for tailored treatment approaches. This information should be used to guide future clinical strategies for metastatic EMPD.

Humans↗
PubMed1979

[Extramammary Paget's disease].

A case of extensive extramammary Paget's disease in the scrotum and penis is demonstrated. The disease started a few years before as eczema-like lesions. No underlying carcinoma was found. The surgical excision resulted in a good cosmetic effect.

Aged↗
PubMed1979

Microscopically controlled surgery for extramammary Paget's disease.

In five cases of extramammary Paget's disease (EMPD), the neoplasms were removed under complete microscopical control by means of fixed-tissue chemosurgical technique in one case and fresh-tissue technique in four cases. In each lesion there were histologically involved areas extending several centimeters into clinically normal-appearing skin. All patients have been free of the disease for periods from four months to nine years. Other authors using conventional surgery have reported a recurrence rate of 44%. Microscopically controlled surgery offers the most reliable method of removing all of the neoplastic tissue EMPD and preserves as much normal tissue as possible.

Aged↗
PubMed1979

Extramammary Paget's disease. A critical reexamination.

Fifty-five patients with extramammary Paget's disease were the source of material for this study. Step-sections were done through most of the specimens. Clinical information, including follow-up, was obtained on 45 of the 55 patients. Extramammary Paget's disease could be divided histologically according to where Paget cells were found, namely: 1) wholly within the epidermis and the epithelial structures of adnexa, and the dermis; 3) within the epidermis, the epithelial structures of adnexa, and contiguous epithelia of other organs such as the genitourinary and gastrointestinal tracts. Our conclusions are that extramammary Paget's disease is more than one disease and in most instances begins in the epidermis as an adenocardinoma and extends from there into contiguous epithelium of hair follicles and eccrine sweat ducts. Uncommonly, Paget cells extend from the epidermis into the dermis and from there may metastasize. Rarely, extramammary Paget's disease results from direct extension into the skin of an adenocarcinoma in a contiguous organ such as the genitourinary or gastrointestinal tract.

Adenocarcinoma↗
PubMed1978

Extramammary Paget's disease.

In a 74-year-old man extramammary Paget's disease of the scrotal and perianal areas masqueraded as tinea cruris and chronic dermatitis for 7 years before it was diagnosed. Topical therapy with 1% 5-fluorouracil cream resulted in clinical improvement but not histologic clearing.

Aged↗
PubMed1979

[Multilocular extramammary Paget's disease].

Paget cells were found histologically in a patient with erythemato-erosive lesions on the genitoperineale areas. These cells were also observed in the right axillary skin within a tiny depigmented spot and even in the left axillary skin which was macroscopically almost intact. There were no signs of metastatic or deep-seated adnexal adenocarcinoma. Treatment consisted of radical operation of the pathological lesions with skin grafting and removal of one testicle. After the operation the x-ray irradiation was performed.

Axilla↗
PubMed1975

Mammary and extramammary Paget's disease. An immunocytochemical study.

The localization and distribution of human casein has been investigated in 20 patients with Paget's disease (16 with the mammary and 4 with the extramammary form) by means of immunofluorescence and immunoperoxidase techniques. This milk protein has been detected in neoplastic cells in intraductal carcinomas of the nipple and in intraepidermal cells identifiable as Paget cells. The degree of the staining varied in different cells of the same case and in different cases. Some casein-containing intraepidermal cells, as revealed by immunofluorescence, could not be recognized after retaining of the sections as Paget cells: they could not morphologically be distinguished from other basally located epidermal cells. This finding raises the question of the existence of "pre-Paget" cells. The results obtained are discussed in relation to theories on the origin and nature of Paget cells. The immunocytochemical methods for casein detection might also be find possible application in the diagnosis of Paget's disease.

Antigens↗
PubMed1975

Extramammary Paget's disease of the external ear canal in association with ceruminous gland carcinoma. A case report.

A case of extramammary Paget's disease of the external ear canal in association with ceruminous gland carcinoma is presented. Extramammary Paget's disease is not uncommonly seen in regions where apocrine glands are prevalent, with or without underlying apocrine gland carcinoma. This is the first case, to our knowledge, of this association in the external ear canal.

Adenocarcinoma↗
PubMed1977

Extramammary Paget's disease of the vulva. A clinicopathologic study of 13 cases.

The clinicopathologic findings of 13 patients having extramammary Paget's disease of the vulva are discussed with emphasis on its histogenesis and biological behavior. For the purpose of study and assessment of prognosis, these cases were divided into two groups, those with an underlying invasive cutaneous adnexal adenocarcinoma, and those lacking an underlying invasive lesion. Four cases contained invasive cutaneous adnexal adenocarcinoma; in one of these the invasion was superficial. Three of the cases with an invasive lesion and three other cases showed in situ adenocarcinoma of sweat glands. Surgical treatment is mandatory for both groups of patients. The prognosis was excellent for the patients having Paget's disease without an underlying invasive carcinoma. From the literature, the prognosis of those with an underlying invasive carcinoma of the vulva appears to be less favorable. Multiple surgical excisions may be required to control the recurrences and metastases. A frequent association with other internal malignancy was observed. In four cases, second malignancies were found. Of special interest was the demonstration in one case of columns of neoplastic cells extending from involved sweat glands to the surface epithelium via the intradermal sweat duct. Our study leads us to support the concept that the Paget's cells, in a number of cases, are derived from an underlying carcinoma in situ of sweat gland origin.

Adenocarcinoma↗
PubMed2026

The mechanism of malignant progression in extramammary Paget's disease (EMPD): hallmarks of EMPD.

The pathogenesis of cancer is characterized by the acceleration of tumor growth, inhibition of tumor suppression, genetic and epigenetic alteration, lubricative transformation and tumor microenvironment. Extramammary Paget's disease (EMPD) is a rare skin cancer that originates from apocrine glands in genital and axillary area. Although the pathogenesis of EMPD is still poorly understood, increasing evidence reveals that the mechanism of EMPD progression is regulated by the acquired ability of EMPD cells and tumor microenvironment. HER2/PI3K/AKT signaling and hormone receptor pathways are activated. Whereas tumor mutation burden is low, numerous driver genes such as ERBB2 and PIK3CA are detected. Tumor evolution in EMPD is characterized by high genetic intratumor heterogeneity with shared background factors. Tumor microenvironment in EMPD promotes immune evasion through the reduction of reduced CD4 + and CD8 + T cells and the increase of Treg cells and CD163 + macrophages. Enhanced Warburg effect and S. aureus contribute to the suppression of antitumor immunity. This review focuses on the mechanism of malignant progression in EMPD (hallmarks of EMPD).

Genome mutation↗