Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carcinoma. International Collaborative Group on HNPCC.
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.
Division of Surgical Oncology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA.
M A
MA
Rodriguez-Bigas
H F
HF
Vasen
H T
HT
Lynch
P
P
Watson
T
T
Myrhøj
H J
HJ
Järvinen
J P
JP
Mecklin
F
F
Macrae
D J
DJ
St John
L
L
Bertario
P
P
Fidalgo
L
L
Madlensky
P
P
Rozen
D000230:Adenocarcinoma / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002276:Carcinoid Tumor / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000150:complications* / Q000473:pathology; D004268:DNA-Binding Proteins / Q000235:genetics; D004379:Duodenal Neoplasms / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011379:Prognosis; D012307:Risk Factors; D016019:Survival Analysis
D004268:DNA-Binding Proteins; D005819:Genetic Markers