Paget’s disease derived in situ from reserve cell hyperplasia, squamous metaplasia, and squamous cell carcinoma of the esophagogastric junction: a case report

Background Extramammary Paget’s disease (EMPD) of the esophagus is a rare tumor, with most cases originating from invasive adenocarcinoma of the esophagus. Pure esophageal Paget’s disease, in which no underlying invasive carcinoma component is present, is extremely rare. In this report, we describe a case of EMPD of the esophagogastric junction with no evidence of invasive carcinoma. Case presentation An 81-year-old Japanese woman with a 2-week history of abdominal distension presented to our hospital for assessment. Endoscopic examination revealed a mild elevated granular lesion, with a slightly depressed irregular mucosa, in the distal esophagus, with EMPD confirmed by biopsy. Thoracoscopic esophagectomy with lymph node dissection was performed, with Paget cells observed on microscopic examination in the lower part of the esophageal epithelium. Only a few Paget cells stained positively for PAS/Alcian blue. Immunohistochemically, negative staining for CK5 and p63 were identified in the Paget cells, with positive staining for CK7. Furthermore, an intraepithelial squamous cell carcinoma, with squamous metaplasia and reserve cell hyperplasia, was observed in the gastric mucosa of the esophagogastric junction, adjacent to the Paget cells. Conclusions EMPD of the esophagus is a rare disease. We report a case of EMPD that was probably derived from a gastric squamous cell carcinoma, with squamous cell metaplasia and reserve cell hyperplasia, in the esophagogastric junction, which, to our knowledge, is the first report of this type of EMPD in the clinical literature.