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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.

Response to 5-Fluorouracil in Metastatic Extramammary Paget Disease of the Scrotum Presenting as Pancytopenia and Back Pain