[Juvenile polyposis coli. The usefulness of a genetic study and the role of surgical treatment].
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.
Tenière
Paul
P
Service de Chirurgie Générale et Digestive, Hôpital Charles Nicolle, 1, rue de Germont, 76031 Rouen Cedex. Paul.Tenière@chu-rouen.fr
Songne
Kléber
K
Frebourg
Thierry
T
Moguelet
Philippe
P
Foulatier
Olivier
O
Michot
Francis
F
Le Pessot
Florence
F
Le Blanc
Isabelle
I
Scotte
Michel
M
D011125:Adenomatous Polyposis Coli / Q000235:genetics / Q000473:pathology / Q000601:surgery; D000328:Adult; D002648:Child; D003082:Colectomy; D003106:Colon / Q000473:pathology; D004564:Electrocoagulation; D005260:Female; D005743:Gastrectomy; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011706:Pyloric Antrum / Q000473:pathology; D012307:Risk Factors