We report a rare case of Peutz-Jeghers syndrome(PJS) in a 27-year-old woman who developed endocrine cell carcinoma of the stomach, hamartomatous polyps in stomach and jejunum, and sex cord tumor with annular tubules and serous cystadenoma in ovary. Polyps removed from the stomach and jejunum showed features typical of hamartomas. Gastric endocrine cell carcinoma(ECC) revealed undifferentiated medullary type growing in solid islands of large cells and having remarkable cellular atypia and numerous mitoses. ECC cells were argentaffinic and diffusely strong positive for chromogranin and neuron-specific enolase. Synchronous production of several peptides, such as glucagon, ACTH, and somatostatin, was shown in this gastric ECC. The nuclei of the tumor cells were diffusely and strongly positive for anti-p53 anti body, reflecting the presence of p53 mutation. Ultrastructurally, membrane bound dense core neuroendocrine granules were present in the cytoplasm of the tumor cells. This is the first report of a PJS associated with gastric ECC. We also firstly demonstrated that p53 mutation occured in carcinogenesis of gastric ECC as well. This case adds an example of predisposition of PJS to unusual gastric ECC and indicates the importance of alterations of p53 tumor suppressor genes in carcinogenesis of gastric ECC.
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