Progression toward malignancy of hamartomas in a patient with Peutz-Jeghers syndrome: case report and literature review.

Peutz-Jeghers syndrome, inherited in an autosomal dominant fashion, is characterized by hamartomatous polyps of the gastrointestinal tract and by mucocutaneous pigmentation. The frequency of gastrointestinal malignant disease in this syndrome is estimated to be 2% to 3%. The authors review reports associating Peutz-Jeghers syndrome with malignant disease and present a patient who had advanced jejunal adenocarcinoma in association with Peutz-Jeghers syndrome. It has not been determined with certainty whether the malignant lesions arise from hamartomas, from associated adenomatous polyps or from the normal mucosa. Histologic examination of the excised specimen from the patient reported in this paper showed areas typical of a hamartoma as well as areas of hyperplasia, adenoma with mild to severe dysplasia and carcinoma in situ all in the same polyp. These findings suggest that the hamartomatous polyps found in Peutz-Jeghers syndrome have the potential to undergo malignant transformation.