[Peutz-Jeghers' syndrome with malignant development in a hamartomatous polyp: report of one case and review of the literature]. / Dégénérescence inaugurale d'un polype hamartomateux au cours du syndrome de Peutz-Jeghers: à propos d'un cas avec revue de la littérature.

The malignant potential of hamartomatous polyps in Peutz-Jeghers' (PPJ) syndrome has been debated. Although it is a very rare event, these polyps can become malignant, as demonstrated by this report. One case of colonic adenocarcinoma associated with Peutz-Jeghers' syndrome is described in a 62-year-old woman. The patient had colonic carcinoma which developed in a hamartomatous polyp. The malignant development of this colonic hamartomatous polyp arising in Peutz-Jeghers' syndrome was pathologically confirmed at surgery. This case also shows a sequence of hamartoma-dysplasia-carcinoma in a hamartomatous polyp without adenomatous changes. This suggests that hamartomatous polyps in Peutz-Jeghers' syndrome may develop into adenocarcinoma and may be a precursor of gastrointestinal carcinomas. STK 11 is a tumor suppressor gene regulating the development of hamartomas, and this somatic mutation promotes gastrointestinal cancer at later stages in Peutz-Jeghers' syndrome.