Clinicopathological Correlation and Recurrence Outcome of Adnexal Involvement on Primary Extramammary Paget’s Disease (EMPD)

Clinicopathological Correlation and Recurrence Outcome of Adnexal Involvement on Primary Extramammary Paget’s Disease (EMPD)

Primary extramammary Paget's disease (EMPD) is a rare type of cancer that appears as well-defined red plaques, often misdiagnosed due to its similarity to other skin conditions. This study aimed to evaluate the clinicopathological correlation of primary EMPD with adnexal features by analyzing 43 confirmed cases in patients aged 45-95. Expert dermatopathologists, blinded to initial diagnoses, conducted thorough histopathological evaluations. Statistical analyses included Pearson’s Chi-square, Mann-Whitney U, Spearman’s Correlations, Kaplan-Meier, log-rank tests, and Cox regression to assess correlations and recurrence predictions.

The results showed significant associations between adnexal involvement and the site of lesions, as well as between adnexal depth and EMPD subtypes. Smaller, non-invasive EMPD lesions were associated with longer recurrence-free periods, while the primary EMPD subtype was the only independent predictor for recurrence time. The study concludes that adnexal proliferation is crucial for both clinicopathological correlations and recurrence predictions, highlighting its importance in the diagnosis and prognosis of primary EMPD.

, , ,

Whole genome sequencing of HER2-positive metastatic extramammary Paget’s disease

, , ,
Whole genome sequencing of HER2-positive metastatic extramammary Paget’s disease

Extramammary Paget’s disease (EMPD) is a rare cancer that occurs within the epithelium of the skin, arising predominantly in areas with high apocrine gland concentration such as the vulva, scrotum, penis and perianal regions. Here, we aim to integrate clinicopathological data with genomic analysis of aggressive, rapidly-progressing de novometastatic EMPD responding to HER2-directed treatment in combination with other agents, to attain a more comprehensive understanding of the disease landscape

,

Unusual case of extramammary Paget disease of the oral mucosa: A case report and literature review

,
Unusual case of extramammary Paget disease of the oral mucosa: A case report and literature review

Paget disease is an intraepithelial neoplastic proliferation, commonly occurring in the breast and apocrine-rich areas, often associated with an underlying internal malignancy. Extramammary Paget disease (EMPD) of the oral cavity is exceedingly rare, with only eight reported cases, four of which were associated with an underlying internal malignancy. Here, we report a case of oral EMPD involving the buccal mucosa and gingiva of an 81-year-old male with no known underlying internal malignancy. The Paget cells were positive for CK7, CK20, CAM5.2, and androgen receptor, but negative for SOX10 and p63. The immunophenotype, association with internal malignancies, and treatment approaches for oral EMPD are reviewed.

,

Incidence and Survival of Extramammary Paget’s Disease from the Surveillance, Epidemiology, and End Results (SEER) Database

,
Incidence and Survival of Extramammary Paget’s Disease from the Surveillance, Epidemiology, and End Results (SEER) Database

Extramammary Paget’s Disease (EMPD) is a rare intraepithelial neoplasm predominantly affecting the anogenital regions of older, female, and Asian patients. It often progresses insidiously, leading to diagnostic delays spanning years. This study, conducted through a retrospective review of EMPD patients from 22 SEER registries between 2004 and 2020, aimed to analyze contemporary trends in incidence and survival across sexes. The data included various demographics and clinical factors, and age-adjusted incidence rates were calculated over a 20-year period. Survival estimates were assessed using Kaplan-Meier curves, while Cox proportional hazards models were utilized to identify factors associated with all-cause mortality. The study included 3608 patients, with a higher incidence in Asian patients, who had a rate double that of white patients. Notably, the incidence increase was significant only among white patients. Females had a better ten-year survival rate (63.0%) compared to males (53.4%). Multivariable analysis revealed that older age, advanced disease stage, and treatment delays were linked to poorer overall survival, while primary surgical treatment significantly reduced mortality risk compared to no cancer-directed treatment. The study highlights the rising incidence of EMPD and emphasizes the importance of early, complete surgical resection in improving long-term survival outcomes.

,

Preoperative mapping biopsies with local excision in the treatment of Extramammary Paget Disease

,
Preoperative mapping biopsies with local excision in the treatment of Extramammary Paget Disease

Surgical excision of extramammary Paget disease (EMPD) is associated with a high local recurrence rate. This study found that PMB before local excision significantly reduced the risk of recurrence when treating EMPD. Further studies are necessary to compare the recurrence rates of PMB, Mohs micrographic surgery and WLE for EMPD.

,

Extramammary Paget Disease of Oral Mucosa: Case Report with Literature Review

,
Extramammary Paget Disease of Oral Mucosa: Case Report with Literature Review

Extramammary Paget disease (EPMD) of the oral mucosa is an unusual and extremely rare condition, with fewer than ten cases documented. Here, we report a case of EMPD extensively involving oral mucosa and underlying salivary ducts in a 72-year-old male and review published clinical, histologic, immunophenotypic, and prognostic features of this rare entity.

,

Long-Term Complete Response and Survival in Metastatic Extramammary Paget’s Disease Treated With Trastuzumab Plus Paclitaxel: A Case Report

,
Long-Term Complete Response and Survival in Metastatic Extramammary Paget’s Disease Treated With Trastuzumab Plus Paclitaxel: A Case Report

Extramammary Paget’s disease is a rare skin cancer that usually arises from the secretory cells of the apocrine glands. In most cases, an extramammary Paget’s tumor occurs as a single intraepithelial form not associated with another cancer, although rarely, it may be associated with other loco-regional or distant cancer. In this case report, we have observed a long-lasting complete response with anti-HER2 plus paclitaxel.

A familial case of extramammary Paget disease: Analysis of whole-exome sequencing

A familial case of extramammary Paget disease: Analysis of whole-exome sequencing

Extramammary Paget disease (EMPD) is a rare, cutaneous malignancy that is most likely to occur in the genital area of the elderly population. Although there have been several reports on familial EMPD, its pathogenic germline mutations have not been analyzed. We herein report the results of the genetic analysis of an EMPD patient with a family history of the same disease, affecting her mother and sister.

Treatment of extramammary Paget's disease with imiquimod in a real-life setting: a multicenter retrospective analysis in Spain

Treatment of extramammary Paget's disease with imiquimod in a real-life setting: a multicenter retrospective analysis in Spain

Topical imiquimod has shown to be an effective treatment for EMPD, although available evidence supporting its use is based on case reports and small series of patients. To investigate the therapeutic outcomes and analyze potential clinico-pathological factors associated with imiquimod response in a large cohort of EMPD patients.

,

Identification of a rare MET variant in a familial case of extramammary Paget’s disease

,
Identification of a rare MET variant in a familial case of extramammary Paget’s disease

Extramammary Paget’s disease (EMPD) is an intraepithelial adenocarcinoma that primarily affects the genital and axillary areas in elderly individuals. A limited number of paired familial EMPD cases (i.e., parent-offspring, siblings) have been reported, whereas the genetics of these cases have not yet been adequately studied.  We report the first familial case of EMPD involving three affected siblings.  The tumour-only multigene panel testing using surgical specimens revealed a heterozygous c.2997A>C (p.Glu999Asp) nonsynonymous variant in the proto-oncogene MET (NM_000245.4) in the three affected siblings. The germline multi-gene panel testing using peripheral blood lymphocytes revealed the same missense MET variant in all five family members, including the two asymptomatic offspring (51 and 37 years of age). The MET variant we identified could be involved in EMPD carcinogenesis. Further genomic analyses of familial cases of EMPD are warranted to validate the pathogenic relevance of MET variants in EMPD development.

Anatomic Subtype Differences in Extramammary Paget Disease

Anatomic Subtype Differences in Extramammary Paget Disease

How do disease presentation and treatment in extramammary Paget disease (EMPD) differ by anatomic subtype? This meta-analysis of 135 studies found that, despite typically being intraepidermal, vulvar disease was more likely treated with radical surgery. Nearly one-third of vulvar cases recurred, predominantly locally in the skin and mucosa and one-third of perianal EMPD cases recurred; however, one-third of those recurrences presented as regional or distant metastasis and penoscrotal EMPD was least likely to recur.

,

FOXM1: a new therapeutic target of extramammary Paget disease

,
FOXM1: a new therapeutic target of extramammary Paget disease

Extramammary Paget disease (EMPD) is a rare skin cancer that primarily affects older individuals predominantly in areas with apocrine sweat glands. Although most early EMPD lesions are indolent, patients with metastatic EMPD have a poor prognosis due to the lack of effective systemic treatment. In this study, we investigated the role of forkhead box M1 (FOXM1), a potent transcription factor, in EMPD and assessed the potential of FOXM1 as a therapeutic target. Immunohistochemistry of 112 primary and 17 metastatic EMPD samples revealed that FOXM1 expression increased with tumor progression. Patients in whom FOXM1 was expressed in more than 10% of tumor cells had significantly shorter disease-specific survival than the other patients (p = 0.0397). In in vitro studies using our newly established EMPD cell line, KS-EMPD-1, we found high expression of FOXM1. Knockdown of FOXM1 impaired tumor cell viability, migration, and invasion. Inhibition of FOXM1 using thiostrepton also reduced tumor cell viability in a dose-dependent manner. These findings suggest that FOXM1 is a promising therapeutic target for patients with EMPD.

,

Untargeted metabolomics yields insight into Extramammary Paget's disease mechanisms

,
Untargeted metabolomics yields insight into Extramammary Paget's disease mechanisms

Extramammary Paget's disease (EMPD) is a rare cutaneous malignancy, commonly affecting the external genitalia and perianal area of the elderly with unclear pathogenesis. Metabolomics provides a novel perspective for uncovering the metabolic mechanisms of a verity of cancers. Here, we explored the metabolome of EMPD using an untargeted strategy. Results showed that a total of 896 metabolites were identified and 87 metabolites including 37 up-regulated and 50 down-regulated significantly in EMPD were sought out. This study was the first to reveal the metabolome profile of EMPD. Our results demonstrate that IDO1/TDO2-initialized KYN metabolic pathway may play a vital role in the development and progression of EMPD, which may serve as a potential therapeutic target for treating EMPD.

,

How to Surveil Perianal Paget's Disease: A Case Report

,
How to Surveil Perianal Paget's Disease: A Case Report

Perianal Paget’s disease (PPD) is a rare manifestation of extramammary Paget’s disease. It is characterized by the presence of malignant glandular epithelial cells within the squamous epithelium. There is a well-established but poorly understood association between PPD and underlying malignancy. Due to the rarity of the disease, there are no established guidelines for treatment or surveillance of PPD. We present the unusual case of a 73-year-old woman with primary PPD without an underlying malignant lesion. The rarity of the disease renders its management and surveillance an ongoing challenge. Our case of PPD without an underlying malignancy poses the question of the most appropriate surveillance for this rare disease.

,

Topical Imiquimod in Primary Cutaneous Extramammary Paget’s Disease: A Systematic Review

,
Topical Imiquimod in Primary Cutaneous Extramammary Paget’s Disease: A Systematic Review

The main treatment for extramammary Paget’s disease (EMPD) is still surgery, but this neoplasm usually spreads beyond the clinical surroundings of the lesion, and achieving histopathologically free margins can be challenging and requires mutilating surgery. Moreover, the recurrence rate of the disease is high, reflecting its multifocal nature. Topical immunotherapy could be an alternative treatment for EMPD. The aim of this systematic review was to assess the effectiveness of topical imiquimod in the clinical response of EMPD patients and to describe the management of topical imiquimod in EMPD. Learning about non-surgical treatments such as topical imiquimod can help clinicians manage EMPD and find a balance between disease resolution and treatment morbidity.

,

TRPS1 expression in primary and secondary extramammary Paget diseases: An immunohistochemical analysis of 93 cases

,
TRPS1 expression in primary and secondary extramammary Paget diseases: An immunohistochemical analysis of 93 cases

Extramammary Paget disease (EMPD) predominantly manifests de novo as primary EMPD, with less than 30 % of cases associated with underlying internal malignancy (secondary EMPD). Differentiating primary from secondary EMPDs based solely on histopathology poses challenges, often necessitating supplementary screening, such as endoscopy or imaging studies, to definitively exclude underlying carcinomas like colonic adenocarcinoma. Recently, TRPS1 immunohistochemistry, initially identified as a sensitive and specific marker for carcinomas and mesenchymal tumors of mammary origin, has been proposed for EMPD. In this study, we conducted a systematic assessment of TRPS1 expression across 93 EMPD cases, comprising 82 primary EMPDs and 11 secondary EMPDs. Upon excluding cases of perianal primary EMPDs, the sensitivity and specificity of TRPS1 for primary EMPDs reached 100 %. Our findings suggest that TRPS1 expression holds notable sensitivity and specificity for primary EMPDs, particularly when arising from non-perianal cutaneous sites. Hence, in suitable clinical contexts, TRPS1 immunohistochemistry may emerge as a promising and valuable tool for distinguishing primary and secondary EMPDs.

Extramammary Paget's Disease of the Glans Penis Secondary to a Recurrent Urothelial Carcinoma of the Bladder

Extramammary Paget's Disease of the Glans Penis Secondary to a Recurrent Urothelial Carcinoma of the Bladder

A 71-year-old man presented with an erythematous plaque around the urinary meatus that had been slowly enlarging for the past eight months. Six months before presentation, the patient was treated based on an impression of eczema. He had a history of radical cystectomy with ileal conduit urinary diversion for urothelial carcinoma of the bladder three years previously. The resected margin was negative and no recurrence had been detected afterward. Physical examination revealed a scaly, erythematous plaque around the urethral orifice.

,

Network meta-analysis of treatments for perineal extramammary paget’s disease: Focusing on performance of recurrence prevention

,
Network meta-analysis of treatments for perineal extramammary paget’s disease: Focusing on performance of recurrence prevention

Perineal extramammary paget’s disease (EMPD) is characterized with high recurrence rate. Although numerous therapeutic measures for this disease have been reported so far, it is unknown whether there is significant difference in their recurrence-preventing efficiency. This study aims to compare the recurrence outcomes of reported perineal EMPD treatments. We searched public databases of for published studies concerning perineal EMPD treatments. After screening by inclusion and exclusion criteria, we extracted the data relevant to recurrence rate, and conducted network meta-analysis (NMA) by using Bayesian random-effects approach. Our analysis included 29 previous studies (involving both male and female patients) and 11 treatment designs which are wide local excision (WLE), local excision (LE), Mohs micrographic surgery (MMS), radiotherapy (RT), radical vulvectomy (RV), photodynamic therapy (PDT), lasers (LS), imiquimod, and WLE+RT, WLE+PDT, WLE+LS. MMS has the best performance on reducing perineal EMPD recurrence.

,

Radiotherapy in Extramammary Paget’s disease

,
Radiotherapy in Extramammary Paget’s disease

Extramammary Paget’s disease (EMPD) is a rare and heterogeneous clinical picture usually recorded on apocrine gland-bearing epidermis areas in extramammary sites, showing a potential invasive evolution and poor prognosis. At diagnosis, it could appear as a primary tumor with secondary co-exhisting visceral malignancies like in anus, male or female genital system, which should be assessed. This rare epidermal carcinoma generally occurs in individuals older than 60 years mainly in Caucasian female and Asian male ethnicity. Although the pathophisiology has been well established, its management is still controversial and requires a multidisciplinary team approach. There are several therapeutic strategies. Among them, radiotherapy is accounted as an effective option in primary or in adjuvant timing but up to now no definitive role has been assessed. Data by case series, case reports and retrospective analyses have provided results on the positive benefit of HDR brachytherapy or external beam radiotherapy (EBRT) mainly in very old patients not suitable for extended surgery, which remains the main treatment care. Long course radiotherapy is a big concern in elderly patients due to logistics and care assistance deficiencies, which makes their access difficult to the radiation centres. Thus, hypofractionated radiotherapy regimens could be a good compromise problem solving to provide excellent local control within a short treatment time. Herein, we present a case of EMPD occurring in a 80 years old woman with vulvo-perineal extension successfully treated with hypofractionated external beam radiotherapy as primary treatment using a schedule 300cGy/fr/51 Gy in 17 treatment days.

Prognostic Factors of Extramammary Paget’s Disease: A Retrospective Study at a Medical Center in Taiwan

Prognostic Factors of Extramammary Paget’s Disease: A Retrospective Study at a Medical Center in Taiwan

Extramammary Paget's disease (EMPD) is a rare, slow growing intra-epidermal malignant neoplasm that arises in areas rich in apocrine glands. Several common sites of occurrence have been reported, including the vulva, perianal region, perineum, and scrotum. Most relevant studies rely on small data bases. Our objective was to evaluate prognostic factors of EMPD patients at a single medical center in Taiwan.

© myEMPD.com • Helping those with extramammary Paget’s disease (EMPD).