Extramammary Paget disease is a rare
intraepithelial neoplasm of the vulvar, penoscrotal, or perianal skin. No effective
therapies for metastatic disease have been reported, and prognosis for metastatic disease is poor.Here, we report the case of an Asian man who was initially diagnosed with
extramammary Paget disease of the scrotum. Three years later, the patient presented to hospital with
pancytopenia and
back pain. After an extensive work-up, biopsies of liver and bone marrow revealed
adenocarcinoma with signet cells and immunohistochemical staining positive for
keratin 7,
carcinoembryonic antigen, and
prolactin-induced
protein, but negative for
keratin 20, S100, and prostate markers, consistent with his previous biopsyproven Paget disease of the scrotum. The patient was treated with 5-fluorouracil-based
therapy in addition to palliative
radiotherapy to selected spine levels. A promising palliative response was demonstrated following
5-fluorouracil chemotherapy.A review of the literature on the pathogenesis, diagnosis, treatment options, and outcomes for metastatic
extramammary Paget disease is presented.