[Peutz-Jeghers' syndrome with malignant development in a hamartomatous polyp: report of one case and review of the literature].
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.
Bouraoui
S
S
Service d'Anatomie Pathologique, Hôpital la Marsa, Tunis, Tunisie. saadia.bouraoui@topnet.tn
Azouz
H
H
Kechrid
H
H
Lemaiem
F
F
Mzabi-Regaya
S
S
D000230:Adenocarcinoma / Q000473:pathology* / Q000601:surgery; D002471:Cell Transformation, Neoplastic / Q000473:pathology*; D003110:Colonic Neoplasms / Q000473:pathology* / Q000601:surgery; D003111:Colonic Polyps / Q000473:pathology*; D005260:Female; D006222:Hamartoma / Q000473:pathology*; D006801:Humans; D008875:Middle Aged; D010580:Peutz-Jeghers Syndrome / Q000150:complications*