Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carcinoma

• Published in: Cancer Vol. 83; no. 2; pp. 240 - 244
• Main Authors: Rodriguez‐Bigas, Miguel A., Vasen, Hans F. A., Lynch, Henry T., Watson, Patrice, Myrhøj, Torben, Järvinen, Heikki J., Mecklin, Jukka Pekka, Macrae, Finlay, John, D. James B. St, Bertario, Lucio, Fidalgo, Paulo, Madlensky, Lisa, Rozen, Paul
• Format: Journal Article Conference Proceeding
• Language: English
• Published: New York John Wiley & Sons, Inc 15-07-1998; Wiley-Liss
• Subjects: Biological and medical sciences; Gastroenterology. Liver. Pancreas. Abdomen; hereditary cancers; hereditary nonpolyposis colorectal carcinoma (HNPCC); Medical sciences; small bowel adenocarcinoma; Small Intestine; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Tumors; Human; Rectal disease; Carcinoma; Prognosis; Malignant tumor; Hereditary; Small intestine; Genetic disease; Colonic disease; Association; Rectum; Digestive diseases; Intestinal disease; Colon
• ISSN: 0008-543X; 1097-0142
• DOI: 10.1002/(SICI)1097-0142(19980715)83:2<240::AID-CNCR6>3.0.CO;2-U

BACKGROUND
Small bowel carcinoma is uncommon. However, hereditary nonpolyposis colorectal carcinoma (HNPCC) patients are at increased risk of small bowel carcinoma. The purpose of this study was to characterize small bowel tumors in HNPCC patients.
METHODS
A questionnaire was mailed to the members of International Collaborative Group on HNPCC (ICG‐HNPCC) requesting clinicopathologic data in their registries on HNPCC patients with small bowel carcinoma. Survival was estimated utilizing the Kaplan‐Meier method.
RESULTS
Forty‐two individuals from 40 HNPCC families developed 42 primary and 7 metachronous small bowel tumors. There were 46 adenocarcinomas and 3 carcinoid tumors. The median age at diagnosis of the index small bowel tumor was 49 years. Mismatch repair gene mutations were present in 15 of 42 patients (36%). There were nine hMLH1 and six hMSH2 mutations. The small bowel was the first site of carcinoma in 24 patients (57%). The median survival for the 42 patients was 47 months (range, 0‐447 months). The overall 5‐ and 10‐year survival rates were 44% and 33%, respectively.
CONCLUSIONS
Small bowel tumors can be the presenting neoplasms in HNPCC patients. Similar to colorectal carcinoma in HNPCC, small bowel adenocarcinomas in HNPCC patients occur at an earlier age and appear to have a better prognosis than those occurring in the general population. Cancer 1998;83:240‐244. © 1998 American Cancer Society.
Small bowel adenocarcinoma can be the presenting neoplasm in hereditary nonpolyposis colorectal carcinoma (HNPCC). Similar to colorectal carcinoma in HNPCC, small bowel adenocarcinoma presents at an earlier age and appears to have a better prognosis than in the general population.