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Prevalence of extramammary Paget’s disease in urban China: a population-based study

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Prevalence of extramammary Paget’s disease in urban China: a population-based study

Extramammary Paget’s disease (EMPD) is a rare intraepithelial adenocarcinoma that significantly impacts quality of life due to its chronic and symptomatic nature. A population-based study using data from China’s Urban Employee and Resident Basic Medical Insurance in 2016 aimed to assess EMPD prevalence and its demographic patterns in China, where no national data previously existed. The study identified 84 cases, revealing a crude prevalence of 0.04 per 100,000 population, with regional variations ranging from 0.01 in North/Northeast China to 0.08 in Southwest China. The condition was more common in males (0.05) than females (0.03) and most prevalent among individuals aged 70–79 (0.28). This prevalence is notably lower compared to Western countries, and the Chinese patients were generally younger with a significant male predominance. Further research is needed to explore the underlying mechanisms of EMPD.

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Ectopic extramammary Paget disease in thoracic location

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Ectopic extramammary Paget disease in thoracic location

Extramammary Paget disease (EMPD) is a rare skin cancer that affects areas with a high concentration of apocrine glands including genital, axillary, and anal skin. When it affects other locations it is called ectopic extramammary Paget disease (E-EMPD) and is uncommon. To date, there are only 45 case reports to the best of our knowledge. The clinical manifestation is typically a soft, red or bright pink patch or plaque with scattered white islands of hyperkeratosis and erosion. Diagnostic confirmation requires conventional histology with immunohistochemistry. The importance of immunohistochemical staining for the diagnosis of primary neoplasia, without underlying malignancy, is highlighted. We report the first Latin American confirmed case, to our knowledge, of primary E-EMPD in a 55-year-old man with a 1-year history of asymptomatic thoracic plaque.

Treatment of Metastatic Extramammary Paget Disease with Combination Ipilimumab and Nivolumab: A Case Report

Metastatic primary cutaneous extramammary Paget disease (EMPD) is a rare clinical entity with a 5-year survival <10% and no standard therapy. We report the first case to our knowl- edge of metastatic EMPD with treatment response to checkpoint inhibitor immunotherapy. The patient had diffusely metastatic disease and previously progressed on cytotoxic chemotherapy and a molecularly targeted agent. Treatment with four cycles of ipilimumab 1 mg/kg plus nivolumab 3 mg/kg resulted in a durable partial response lasting 7 months. Analysis of metastatic tumor tissue failed to identify known predictors of treatment response to immune checkpoint inhibitors, such as high PD-L1 expression, high tumor mutation burden, or micro- satellite instability. These findings support further investigation of immune checkpoint inhibi- tion for the management of metastatic EMPD, which currently has an abysmal prognosis and no standard therapies.

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The Outcome of Chemotherapy for Metastatic Extramammary Paget’s Disease

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The efficacy and survival impact of conventional chemotherapies for metastatic extra- mammary Paget’s disease (EMPD) have not been fully elucidated. This study examined the long- term outcome of chemotherapy for this indication. We conducted a retrospective review of 21 pa- tients with distant metastatic EMPD (14 patients treated with chemotherapy and 7 patients treated without chemotherapy). The response rate of chemotherapy and patient survival were statistically analyzed.

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Toluidine blue for extramammary Paget’s disease in Mohs micrographic surgery

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Toluidine blue for extramammary Paget’s disease in Mohs micrographic surgery

We report an elderly gentleman with Extramammary Paget’s disease (EMPD) treated with Mohs micrographic surgery (MMS) using Toluidine blue staining intraoperatively as to detect the Paget’s cells. An elderly man presented with an erythematous plaque on the left inguinal fold which showed in-situ EMPD on histopathological examination. Investigations for secondary EMPD were negative and the patient was treated with MMS. During MMS, the specimens from the patient were stained using Toluidine blue in order to detect the Paget cells and to determine the appropriate negative margin. At 4 years follow up the patient is free of recurrence. Toluidine blue is a fast, user-friendly dye that can be used intraoperatively during MMS as to detect Paget cells and thus to determine the appropriate negative margin.

Hormonal Environment and HER2 Status in Extra-Mammary Paget’s Disease (EMPD)

Hormonal Environment and HER2 Status in Extra-Mammary Paget’s Disease (EMPD)

Extra-mammary Paget’s disease (EMPD) is a rare neoplasm of epithelial origin, whose precise incidence is not clear. Starting from what is already known, we performed a systematic review and meta-analysis to investigate in male and female patients the immunohistochemical expression of biological markers that could serve as potential prognostic/therapeutic factors, including only human epidermal growth factor receptor 2 (HER2/neu), Estrogen Receptor (ER), Progesterone Receptor (PR), and Androgen Receptor (AR). Methods. A literature search was performed of the PubMed, Scopus, and Web of Science databases for English-language studies published from January 2000 to June 2020. Results. A total of 27 studies with 713 patients assessed the role of HER2/neu, AR, ER, and PR expression in male and female with EMPD. The overall rate of HER2/neu expression was 30%, the expression’s rate for ER and AR was 13% and 40%, respectively, and the overall rate for PR was 8%. The subgroup analysis revealed that there is a different expression of molecular markers between male and female patients. Conclusions. This study revealed that AR status and HER2/neu overexpression/amplification have been shown as two fundamental pathogenetic pathways in both female and male patients affected by EMPD.

Well-demarcated erythematous plaque on the arm

A 67-year-old Caucasian man presented with an asymptomatic, well-defined, irregular shaped, erythematous scaly plaque on the left upper arm for five years [Figure 1]. There was no cervical or axillary lymphadenopathy. A skin punch biopsy was performed from the plaque.

DISCUSSION

Extramammary Paget disease is a rare intraepidermal adenocarcinoma that primarily affects apocrine gland-bearing skin most commonly over the anogenital area. When the disease affects nonapocrine bearing skin, it is called ectopic extramammary Paget disease.1 The pathophysiology of ectopic extramammary Paget disease is unknown. Sawada et al. reported the possibility that ectopic extramammary Paget disease originates potentially not only from the apocrine gland but also from the eccrine gland.2 Clinically and histologically, there is no difference between ectopic extramammary Paget disease and conventional one.2 Extramammary Paget disease is well known for its association with malignancy. Chanda reported the incidence of underlying adnexal carcinoma and concurrent internal malignancy associated with extramammary Paget disease as 24% and 12%, respectively.3 The location of the underlying internal malignancy appears to correlate with the site of extramammary Paget disease. For example, the perianal and perineal location is associated with adenocarcinoma of the digestive system and genitourinary malignancy, respectively.4

Till now, there have been 46 cases of ectopic extramammary Paget disease in literature, of which only two cases have been reported in association with internal malignancy. The first case is ectopic extramammary Paget disease of the lateral thigh arising in association with sweat gland carcinoma of the same area,5 the second being ectopic extramammary Paget disease in the midline of the abdomen with underlying colon adenocarcinoma.6

Whole-body evaluation for malignancy should be performed. For evaluation of internal neoplasm, positron emission tomography-computed tomography, upper and lower endoscopy and laboratory tests were recommended. However, the patient refused further testing.7

Extramammary Paget disease is clinically similar to Bowen disease and superficial basal cell carcinoma.8 Thus, clinicians should keep in mind the possibility of ectopic extramammary Paget disease when there is treatment resistance skin lesion with eczematous morphology on the apocrine gland poor regions.

The diagnosis of extramammary Paget disease, in this case, was supported by immunohistochemical findings. Pagetoid cells in pagetoid Bowen disease usually demonstrate immunohistochemical features of squamous cells, which are negative for CK7 and positive for P63.9 In this case, positivity for CK7 but negativity for p63 and Melan A supported the diagnosis of extramammary Paget disease, ruling out Bowen disease and melanoma in situ. A negative result of CK20 immunohistochemical stain supported the diagnosis of primary extramammary Paget disease rather than secondary extramammary Paget disease from an internal malignancy.9 This case has been reported as a rare case of ectopic extramammary Paget disease appearing on an unusual site.

Genitourinary extramammary Paget’s disease: review and outcome in a multidisciplinary setting

Genitourinary extramammary Paget’s disease: review and outcome in a multidisciplinary setting

Extramammary Paget’s disease (EMPD) is a rare malignant disease originating from the apocrine glands involving the perineum, vulva, axilla, scrotum, and penis. To study the clinical presentation, extent of disease, efficacy of treatment, and survival outcomes of the cases in a single institution. Retrospective observation data analysis of 19 EMPD cases was performed. Demographic information, clinical management records, and histopathologic data of individual cases were obtained from the inpatient hospital data registry.

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Genomic Alterations as Potential Therapeutic Targets in Extramammary Paget’s Disease of the Vulva

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Genomic Alterations as Potential Therapeutic Targets in Extramammary Paget’s Disease of the Vulva

We identified all patients with primary vulvar EMPD who were treated at our institution and underwent paired tumor-normal massively parallel sequencing of 410-468 cancer-related genes (MSK-IMPACT assay). EMPD of the vulva samples sequenced from 2014 to 2019 were reviewed and somatic mutations identified, with specific focus on mutations of potential therapeutic targets. Clinical data were abstracted from electronic medical records. EMPD of the vulva has a chronic and relapsing course, often requiring multiple surgical resections. Effective topical treatments are lacking. We identified targetable mutations (PIK3CA or ERBB2) in . 25% of a real-world clinical cohort. Additional prospective research implementing targetable therapies for EMPD treatment is warranted.

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Efficacy of Abemaciclib in the Management of Refractory Metastatic Extramammary Paget’s Disease

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Efficacy of Abemaciclib in the Management of Refractory Metastatic Extramammary Paget’s Disease

Published systemic therapy options for metastatic extramammary Paget's disease have largely been anecdotal due to the rarity of this disease, which has precluded the ability to conduct clinical trials. We describe the favorable response of a 72-year-old man with extramammary Paget's disease, whose disease has been controlled with the CDK4/6 inhibitor, abemaciclib. The rationale behind the selection of this therapy is discussed.

Genomic Alterations as Potential Therapeutic Targets in Extramammary Paget’s Disease of the Vulva

Genomic Alterations as Potential Therapeutic Targets in Extramammary Paget’s Disease of the Vulva

We identified all patients with primary vulvar EMPD who were treated at our institution and underwent paired tumor-normal massively parallel sequencing of 410-468 cancer-related genes (MSK-IMPACT assay). EMPD of the vulva samples sequenced from 2014 to 2019 were reviewed and somatic mutations identified, with specific focus on mutations of potential therapeutic targets. Clinical data were abstracted from electronic medical records. Microsatellite instability (MSI) was assessed by MSIscore.

Extramammary Paget Disease

Extramammary Paget Disease

Extramammary Paget disease (EMPD) is a rare dermatologic condition that frequently presents in areas where apocrine sweat glands are abundant, most commonly the vulva, although perineal, scrotal, perianal, and penile skin may also be affected. Lesions clinically present as erythematous, well-demarcated plaques that may become erosive, ulcerated, scaly, or eczematous. Extramammary Paget disease has a female predominance and usually occurs in the sixth to eighth decades of life. Professionals disagree about many aspects of EMPD, for example, the prevalence of concurrent vulvar adenocarcinoma or invasive EMPD, association with regional and distant cancers, and recurrence rates following surgical excision. Early recognition is imperative because the diagnosis is frequently delayed and there is a high incidence of associated invasive disease.

Extramammary Paget’s Disease and Melanoma: 2 Cases of Double Cancers

Extramammary Paget’s Disease and Melanoma: 2 Cases of Double Cancers

Extramammary Paget’s disease (EMPD) is a rare intraepidermal neoplastic disease. There is a well-known relationship between EMPD and underlying malignancy. However, only a few cases of EMPD and cutaneous melanoma have been reported previously. In this case report we present 2 cases of such double cancers: one as a collision tumor, the other at separate sites. We discuss the pathogenesis, treatment, and importance of a thorough clinical and radiological examination and review the literature.

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Co-occurrence of apocrine adenocarcinoma and invasive mammary-type ductal carcinoma in extramammary Paget disease of the axilla

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Co-occurrence of apocrine adenocarcinoma and invasive mammary-type ductal carcinoma in extramammary Paget disease of the axilla

Extramammary Paget disease (EMPD) is an uncommon malignancy that occurs in apocrine gland-rich areas of the body. EMPD of the axilla is rare, but a few cases have been reported. Some cases of EMPD have been reported with underlying apocrine adenocarcinoma; rarely, mammary-type ductal carcinoma can accompany EMPD. Here, we report a very rare case of EMPD with apocrine adenocarcinoma and invasive mammary-type ductal carcinoma.

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Comparison of the biomarkers for targeted therapies in primary extra‐mammary and mammary Paget's disease

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Comparison of the biomarkers for targeted therapies in primary extra‐mammary and mammary Paget's disease

Primary Extra‐mammary Paget's disease (EMPD) is a very rare cutaneous adenocarcinoma affecting anogenital or axillary regions. It is characterized by a prolonged course with recurrences and eventually distant metastatic spread for which no specific therapy is known.

Eighteen EMPD (13 vulvar and five scrotal) and ten mammary Paget's disease (MPD) cases were comprehensively profiled for gene mutations, fusions and copy number alterations, and for therapy‐relevant protein biomarkers).

Mutations in TP53 and PIK3CA were the most frequent in both cohorts: 7/15 and 5/15 in EMPD; 1/6 and 4/7 in MPD HER2 gene amplification was detected in 4/18 EMPD (3 vulvar and 1 scrotal case) in contrast to MPD where it was detected in the majority (7/8) of cases. TOP2A gene amplification was seen in 2/12 EMPD and 1/6 MPD, respectively. Similarly, no difference in estrogen receptor expression was seen between the EMPD (4/15) and MPD (3/10). Androgen receptor was also expressed in the majority of both cohorts (12/16 EMPD) and (7/8 MPD).Here ARv7 splice variant was detected in 1/7 EMPD and 1/4 MPD cases, respectively. PD‐L1 expression on immune cells was exclusively observed in three vulvar EMPD. In contrast to MPD, six EMPDs harbored a “high” tumor mutation burden (≥10 mutations/Mb). All tested cases from both cohorts were MSI stable.

Extramammary Paget’s disease: what do we know and how do we treat?

Extramammary Paget’s disease: what do we know and how do we treat?

The complexity of Extramammary Paget’s Disease (EMPD) has been apparent for decades with minimal improvements in diagnostic and therapeutic options. This rare carcinoma generally afflicts individuals greater than 60 years old and more often Caucasians than any other ethnicity.1 There are a multitude of case series, case reports, and retrospective studies, offering various treatment protocols; however, there is insufficient evidence for clear management guidelines. The heterogeneity of this disease in its presentation, location, depth of invasion and its typical multidisciplinary approach to management make it difficult to treat. The association with other malignancies is a well-described phenomenon and should inform treatment and long term management.2 Use of biomarkers shows promise in diagnosis and treatment monitoring. As immunotherapy (IO) is becoming a mainstay for many cancers, there is growing support for the use of these agents in advanced EMPD patients.

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Extramammary Paget’s disease: what do we know and how do we treat?

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Extramammary Paget’s disease: what do we know and how do we treat?

Signi!cant developments in understanding the pathogenesis of EMPD have been made, especially of the genomic aberrations associated with EMPD. This has allowed for the development and use of therapeutic options which may improve outcomes for patients with EMPD.

Extramammary Paget disease shows differential expression of B7 family members B7-H3, B7-H4, PD-L1, PD-L2 and cancer/ testis antigens NY-ESO-1 and MAGE-A

Extramammary Paget disease shows differential expression of B7 family members B7-H3, B7-H4, PD-L1, PD-L2 and cancer/ testis antigens NY-ESO-1 and MAGE-A

Extramammary Paget disease (EMPD) is a rare cutaneous adenocarcinoma of the anogenital region most commonly treated with surgical excision. Surgical margin clearance is often problematic and recurrence rates remain high indicating the need for additional therapeutic options. Topical immunomodulators have been used with reported success suggesting EMPD may respond to other immunotherapies. This study investigates EMPD protein expression of targetable B7 family members and cancer/testis antigens (CTAs) B7-H3, B7-H4, PD-L1, PD-L2, MAGE-A, and NY-ESO-1 and components of antigen presenting machinery B2M and MHC-I.

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Paget disease of the vulva an analysis of 24 cases

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Paget disease of the vulva an analysis of 24 cases

Paget's disease can arise in the breast (mammary Paget disease) or in other locations (extramammary Paget disease) such as anogenital skin in both males and females (Paget disease of the vulva [PDV]). Underlying adenocarcinoma can be found in some cases. This study aims to report clinical aspects, surgical procedures, outcomes, and recurrences of patients with PDV.

A retrospective chart review was conducted on patients with pathologically confirmed diagnosis of PDV managed at the Department of Obstetrics and Gynecology, University of Bari, and the “Giovanni Paolo II” National Cancer Institute in Bari, between 1998 and 2018.

Records of 24 cases of PDV were examined. Median age of the patients at diagnosis was 69.3 (range 38–84), diagnosis of synchronous cancer was made in 2 cases and in 2 other cases of metachronous disease. Three patients had previously been diagnosed with other oncological diseases. All patients underwent surgery including wide local excision (6), simple vulvectomy (8), and extended vulvectomy (10). Lymphadenectomy was performed in 2 cases and reconstructions with advancement flaps in 7 cases. Four patients were found to have invasive disease and 1 had inguinal node involvement. Positive margins were found in 11 patients. Wound dehiscence and urethral stenosis were found in 4 and 1 case each. Eight recurrences (33.33%) were observed, regardless of positive surgical margins. PDV has a low rate of malignancy but a high rate of recurrence.

A Case of Chronic and Relapsing Paget Disease of the Vulva

A Case of Chronic and Relapsing Paget Disease of the Vulva

Extramammary Paget disease is a rare neoplastic condition that more commonly affects postmenopausal Caucasian women. Although the vulvar area is the most frequently affected location, it corresponds solely to 1 to 2% of all vulvar malignancies. A 72-year-old female patient was observed in our outpatient clinic with a 2-year history of an erythematous and pruritic plaque on the vulva. Histopathology and immunohistochemistry studies were compatible with extramammary Paget disease of the vulva. Associated neoplastic conditions were excluded. Due to multiple relapses, the patient was submitted to three surgical interventions, including a total vulvectomy, and to external radiotherapy. The present case illustrates the chronic and recurrent nature of extramammary Paget disease despite aggressive procedures as well as the challenge in obtaining tumor-free resection margins.

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