Extramammary Paget's disease in two siblings

Demitsu, Toshio; Gonda, K; Tanita, Muneo; Takahira, K.; Inoue, Takato; Okada, Osamu; Yoneda, Kozo; Manabe, Motomu

doi:10.1046/j.1365-2133.1999.03192.x

Cited by 19 publications

(7 citation statements)

References 3 publications

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“… 5,6 The disease is rare in black patients 7 but, interestingly, an increasing number of patients have been observed in Asian populations over the past 4–5 years. Seven familial cases (six Japanese, one British) have been published but the genetic basis is unknown 8 …”

Section: Epidemiologymentioning

confidence: 99%

Extramammary Paget's disease of the vulva: An annotated review of the current literature

Delport

2012

Aust J Dermatology

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Extramammary Paget's disease is a rare and unusual neoplastic entity that presents mainly on apocrine gland-bearing skin. The vulva is the most common site of involvement but any area of the anogenital skin can be affected. Due to its rarity, variable clinical course and deceptive histological appearance it has a high misdiagnosis rate and both gynaecologists and dermatologists have limited experience in its management. The significance of the disease lies in its association with underlying malignancy as well as its inherent ability to invade the dermis and metastasise. The management is notoriously complicated and recurrence rates are high despite aggressive surgeries. Several alternative modalities are being explored, with results that are often variable and unpredictable. This review summarises the histopathological, clinical and therapeutic features of extramammary Paget's disease of the vulva reported in recent years.

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Section: Epidemiologymentioning

confidence: 99%

Extramammary Paget's disease of the vulva: An annotated review of the current literature

Delport

2012

Aust J Dermatology

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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.…”

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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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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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“…Almost simultaneous occurrence of PD in two biological brothers is rarely reported in the literature. Since Kuehn et al 13 first reported familial EMPD in 1973, only two articles about familial EMPD have been published in PubMed, 2 , 14 suggesting that the disease may be related to familial inheritance, but no related gene has been identified.…”

Section: Discussionmentioning

confidence: 99%

Two cases of Paget’s disease of scrotum in biological brothers

Rao¹,

Zhu²,

Kobayashi³

et al. 2015

TCRM

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Extramammary Paget's disease in two siblings

Cited by 19 publications

References 3 publications

Extramammary Paget's disease of the vulva: An annotated review of the current literature

Extramammary Paget's disease of the vulva: An annotated review of the current literature

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

Two cases of Paget’s disease of scrotum in biological brothers

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Extramammary Paget's disease in two siblings

Cited by 19 publications

References 3 publications

Extramammary Paget's disease of the vulva: An annotated review of the current literature

Extramammary Paget's disease of the vulva: An annotated review of the current literature

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

Two cases of Paget&rsquo;s disease of scrotum in biological brothers

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Two cases of Paget’s disease of scrotum in biological brothers