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Case 1

Diagnosis

The whole vulva and vagina were eczematous, erythematous and weeping with contact bleeding. There was extensive excoriation and patchy dense acetowhite lesions after application of acetic acid. The cervix was similarly affected but to a lesser extent.

 

Punch biopsy from the left vulva, vagina and perianal region all showed extra-mammary Paget’s disease. Biopsy from the cervix showed detached suspicious cells of uncertain significance.

 

Investigations

Colonoscopy and hysteroscopy were unremarkable.

 

Cystoscopy showed a bladder tumour involving the trigone and the bladder neck. The whole urethra was erythematous similar to the vagina.

 

Transurethral resection of bladder tumour (TURBT) showed invasive transitional cell (urothelial) carcinoma grade 3 (high grade). Excisional biopsy of the vulva and perianal skin showed extra-mammary Paget’s disease as a manifestation of the transitional cell (urothelial) carcinoma of bladder, with extensive lymphovascular invasion. No intracytoplasmic mucin could be demonstrated in the Paget’s cells by mucicarmine or PASD stains. Immunohistochemically, both the lower genital tract and the bladder tumour cells strongly expressed cytokeratin 7 (CK7) and cytokeratin 20 (CK20), with diffuse moderate positivity for HER2 (c-erbB2). They were negative for BRST-2 (GCDFP-15), CEA and CDX2.

 

Final Diagnosis

Paget’s disease of the genital tract as a manifestation of the transitional cell (urothelial) carcinoma of bladder (Pagetoid urothelial intraepithelial neoplasia, PUIN).

 

Progress

PET-CT scan performed showed extensive lymphadenopathy involving the groins, pelvis and para-aortic areas as well as bone metastasis. Palliative chemotherapy was given and she finally succumbed in May 2011.

 

Discussion

This lady presented with urinary symptoms as well as vulval pain. The differential diagnosis of this grossly eczematous and weeping lesion includes Paget’s disease, vulval intra-epithelial neoplasia, other dermatosis (such as eczema or contact dermatitis) and lower genital infection. Initial colposcopic directed biopsy confirmed extra-mammary Paget’s disease (EMPD) of the lower genital tract. Since about 15% of patients with EMPD are associated with underlying malignancy, further investigations were performed in this lady, which confirmed an underlying invasive bladder tumour with Pagetoid urothelial intraepithelial neoplasia (Type 2 Paget’s disease).

 

According to the Wilkinson and Brown’s classification, vulval Paget’s disease is divided into two main groups: Type 1 is of primary cutaneous origin and Type 2 is of noncutaneous origin. Type 1 disease is usually a primary intraepithelial neoplasm, but it may be associated with invasion or an underlying cutaneous adenocarcinoma from skin appendages. In Type 2 disease, the two most common types of noncutaneous Paget’s disease are those associated with an underlying colorectal adenocarcinoma and transitional cell (urothelial) carcinoma of bladder. The former usually presents as a lesion involving the perianal skin while the latter usually involves the periurethral area and vulval vestibule. Therefore, all patients with Paget’s disease of the vulva should be screened for underlying malignancy, including the breast, urogenital tract, and colorectal region.

 

Histological features of Paget’s disease are characterized by the presence of Paget’s cells with pale cytoplasm located especially near the basement membrane. These cells may be clustered together forming small gland-like structures. Classically, the Paget’s cells of primary cutaneous vulval Paget’s disease are often positive for mucin stain, express CK7, BRST-2 (GCDFP-15) and CEA, while being negative for CD20. More than one half of the cases may also express HER2 (c-erB2). However, secondary Paget’s disease often exhibits an immunophenotype of the primary tumour. In this patient, the cellular morphology and immunohistochemical pattern of the Paget’s disease are similar to the underlying primary transitional cell (urothelial) carcinoma of bladder, with no intracytoplasmic mucin, strong expression of CK7 and CK20, and moderate positivity for HER2 (c-erbB2) in this case. The CK7 / CK20 profile, and the negative staining for BRST-2 (GCDFP-15, a marker for breast and cutaneous glands) and CDX2 (gastrointestinal marker) made underlying primary from breast (CK7 + / CK20 - / BRST-2 +) and colorectal region (CK7 - / CK20 + / CDX2 +) less likely.

 

 

描述: 描述: PUIN Histology

 

 

Paget’s disease with an underlying carcinoma should be treated according to the primary tumour. On the other hand, Paget’s disease without invasion should be resected with a wide margin since patients with positive margins have a significant higher rate of recurrence. However, despite surgical efforts, microscopically positive margins are still common. Repeat local excision is usually required for recurrent disease without invasion. The potential role of targeted therapy for cases with HER2 (c-erbB2) overexpression or HER2 gene amplification remains to be determined.

 

Acknowledgement:

We would like to thank Dr Alex Chan from the Department of Pathology, Queen Elizabeth Hospital for providing comment and histological photo.

 

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