A Case of Peutz-Jeghers Syndrome with Small Bowel Neuroendocrine Carcinoma / 대한내과학회지

ABSTRACT

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous melanin pigmentation. Hamartomas are not generally regarded as premalignant, although patients with PJS are at increased risk for common and unusual types of gastrointestinal and non-gastrointestinal malignancies. However, most of the reported gastrointestinal malignancies have been adenocarcinomas, and few reports of an association of this syndrome with a neuroendocrine tumor (NET) have been published. Moreover, no case of this syndrome with NET has been reported in Korea. Here, we report a 21-year old male with PJS who had a small bowel neuroendocrine carcinoma.