[Juvenile polyposis coli. The usefulness of a genetic study and the role of surgical treatment]. / Polypose juvénile familiale. Intérêt de l'etude génétique et place du traitement chirurgical.

We report two cases of familial juvenile polyposis coli. SMAD4 gene mutation was found in our two patients, leading to the definite diagnosis. Colonic cancer occurred in the first patient. Long-term outcome was favorable after colectomy. In the second patient, prophylactic total colectomy was performed. Rectal bleeding, diarrhea, stomach obstruction and vomiting developed during the follow-up. Proctectomy, distal partial gastrectomy and total gastrectomy were successively performed.