Peutz-Jeghers Syndrome with Extensive Epithelial Misplacements and Adenomatous and Carcinomatous Transformation: A case report

Kwak, Jeong Ja; Jin, So Young; Lee, Dong Wha

Abstract

Peutz-Jeghers syndrome is an autosomal dominant disease characterized by gastrointestinal ployposis and mucocutaneous melanin pigmentation involving the lip, oral mucosa, digits, palms and soles. The polyps are almost hamartomatous. The relationship of gastrointestinal carcinoma and the Peutz-Jeghers syndrome has been discussed for many years. The question is unsettled whether gastrointestinal carcinoma arise in hamartomatous polyps itself. Recently, there are a few reports that adenomatous and carcinomatous changes were superimposed upon the background of the hamartoma. Occasionally epithelial misplacement of the epithelium is found in the small intestinal polyps. Since the epithelial misplacement may involve submucosa, muscularis propria and serosa, a difficulty of histopathologic differential diagnosis between the epithelial misplacement and invasive adenocarcinoma cause overdiagnosis of cancer in the gastrointestinal polyps of Peutz-Jeghers syndrome. We present a case of Peutz-Jeghers syndrome of 39-year-old woman with multiple gastrointestinal polyps, two of which showed extensive epithelial misplacement even into the pancreas and another one at the colon showed carcinomatous change at the tip portion. Areas of hamartoma, adenoma and in situ carcinoma were noted in this colonic hamartomatous polyp. This case support that adenoma and carcinomatous changes may evolve directly within a hamartomaous polyp itself.