Extra-mammary Paget’s disease of the perianal region: A review of the literature emphasizing the operative management technique

Kyriazanos, Ioannis; Stamos, Nikolaos; Miliadis, Lazaros; Noussis, Grigorios; Stoidis, Christos N.

doi:10.1016/j.suronc.2010.09.005

Cited by 72 publications

(102 citation statements)

References 95 publications

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“…4 Caucasian female patients are the most frequently reported population; however, in Asian populations, there is a male predominance for this disease. 4,5 Although some familial extramammary Paget's disease cases have been reported, 6 the epigenetic and genetic abnormalities that contribute to the pathogenesis of this rare disease remain poorly understood.…”

mentioning

confidence: 99%

Correlation of DLC1 gene methylation with oncogenic PIK3CA mutations in extramammary Paget's disease

Kang

Zhang

et al. 2012

Modern Pathology

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Extramammary Paget's disease is a rare cutaneous malignant neoplasm. The genetic and epigenetic mechanisms underlying its pathology remain unknown. In this study, we investigated the expression levels, and mutation and methylation status of a common tumor suppressor gene, deleted in liver cancer 1 (DLC1), and an oncogene, PIK3CA, in tumor (n ¼ 132) and normal tissues (n ¼ 20) from unrelated patients. The presence of epigenetic and genetic lesions was then correlated to the patient pathology data to determine the potential role of these genes in extramammary Paget's disease etiology and progression. The DLC1 gene was found to be downregulated in 43 (33%) tumors, as compared with immunohistochemistry results from normal tissues. Methylation-sensitive, high-resolution melting analysis indicated that the DLC1 promoter was hypermethylated in 51 (39%) extramammary Paget's disease tumors. This hypermethylation was associated with significantly decreased DLC1 levels (P ¼ 0.011), and had a strong positive correlation with advanced age (P ¼ 0.002). PIK3CA mutations were detected by direct sequencing in 32 (24%) tumors, the majority of which were invasive. Furthermore, PIK3CA mutations significantly correlated with DLC1 hypermethylation. Thus, aberrant DLC1 methylation and PIK3CA mutations may have important roles in extramammary Paget's disease pathogenesis, and may represent potential molecular targets for therapy.

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confidence: 99%

Correlation of DLC1 gene methylation with oncogenic PIK3CA mutations in extramammary Paget's disease

Kang

Zhang

et al. 2012

Modern Pathology

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“…[2] Clinical presentation is often nonspecific, its differential diagnosis is complex and the diagnosis is frequently misdiagnosed. PPD has been classified as either primary or secondary, based on immunohistochemistry markers: primary (CK7+/CK20-/gross cystic disease fluid protein (GCDFP)15+)/secondary (CK7±/CK20+/GCDFP15-).…”

Section: Discussionmentioning

confidence: 99%

“…[6] Although, as a group, only 15% of the EMPD harbor an underlying neoplasm, a higher percentage of neoplasia is associated with PPD (up to 60%). [2,7] Surgical methods of treatment are still the mainstay, although other non-surgical modalities have been described (radiotherapy, chemo-radiotherapy, photodynamic therapy, imiquimod 5% cream). [8,9] Local recurrence is high (31%-61%), so long-term follow-up must be guaranteed.…”

Section: Discussionmentioning

confidence: 99%

“…[1] Although rare, 20% of all cases of EMPD involve the perianal region and it is often associated with an underlying carcinoma. [2] 2. CASE PRESENTATION We report the case of a 45-year-old male Caucasian with a one-year history of non-pruriginous, painful, perianal erythema, resistant to topical corticosteroid (0.1% aceponate methylprednisolone cream, once a day, during one month), and antifungal therapy (2% ketoconazole cream, once a day, during one month).…”

Section: Introductionmentioning

confidence: 99%

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Perianal Paget’s Disease with synchronous adenocarcinoma: An unusual diagnosis

Campos

Varela

Baptista

et al. 2016

CRCP

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We present a 45-year-old male Caucasian with a one-year history of perianal erythema resistant to topical corticosteroid and antifungal therapy. Physical examination of the perianal region revealed a painful, non-pruriginous erythema with erosions that involved all the circumference of the anus. No oral and no genital lesions were observed. Serologic and virologic markers were collected and a skin biopsy was performed. The markers turned out to be negative and the biopsy revealed the diagnosis of Perianal Paget Disease (PPD). Imunohistochemistry was positive for CK20, EMA and CEA, and negative for CK7. Digital rectal examination suggested a suspicious thickening in the rectum and colonoscopy revealed the presence of a vegetating mass of the distal rectum. Biopsies of the rectal mass displayed a well-differentiated invasive adenocarcinoma. The patient was proposed to neoadjuvant chemo and radiotherapy, followed by abdominoperineal resection with wide surgical excision and lymph node dissection. This case illustrates the importance and difficulties encountered in the clinical diagnosis of this rare disease.

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“…The treatment of those lesions can be challenging. Different procedures have been reported effective with surgery being considered the standard of care [5,7,8]. This radical approach cannot be considered in every clinical setting.…”

Section: Sarivalasis Et Al 47mentioning

confidence: 99%

The case of an extensive primary extramammary Paget's disease diagnosis and treatment

Sarivalasis¹,

Triboulet²,

Anchisi³

2017

IJCRI

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Extra-mammary Paget’s disease of the perianal region: A review of the literature emphasizing the operative management technique

Cited by 72 publications

References 95 publications

Correlation of DLC1 gene methylation with oncogenic PIK3CA mutations in extramammary Paget's disease

Correlation of DLC1 gene methylation with oncogenic PIK3CA mutations in extramammary Paget's disease

Perianal Paget’s Disease with synchronous adenocarcinoma: An unusual diagnosis

The case of an extensive primary extramammary Paget's disease diagnosis and treatment

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