Small-bowel obstruction as the expression of hereditary non-polyposis colorectal carcinoma

A 25-year-old man underwent periodic coloscopy due to the occurrence of colon carcinoma in the family. At the age of 41, a mutation in the MSH2-gene was detected. More than a year after resection of the sigmoid for recurrent diverticulitis, he developed ileus in the small intestine; in the resected...

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Bibliographic Details
Published inNederlands tijdschrift voor geneeskunde Vol. 148; no. 31; p. 1547
Main Authors Koëter, S, Hesp, W L E M, Beukers, R
Format Journal Article
LanguageDutch
Published Netherlands 31.07.2004
Subjects
Adenocarcinoma - complications
Adenocarcinoma - diagnosis
Adenocarcinoma - genetics
Adenocarcinoma - surgery
Adult
Colorectal Neoplasms, Hereditary Nonpolyposis - complications
Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
Colorectal Neoplasms, Hereditary Nonpolyposis - surgery
DNA-Binding Proteins - genetics
Endoscopy, Gastrointestinal
Follow-Up Studies
Humans
Intestinal Obstruction - etiology
Intestinal Obstruction - pathology
Intestinal Obstruction - surgery
Intestine, Small - pathology
Intestine, Small - surgery
Male
Mutation
MutS Homolog 2 Protein
Proto-Oncogene Proteins - genetics
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Summary:A 25-year-old man underwent periodic coloscopy due to the occurrence of colon carcinoma in the family. At the age of 41, a mutation in the MSH2-gene was detected. More than a year after resection of the sigmoid for recurrent diverticulitis, he developed ileus in the small intestine; in the resected specimen of a non-viable portion of small intestine an adenocarcinoma was found. One year after a wide repeat resection, the patient is doing well. The prevalence of small-bowel tumours in patients with hereditary non-polyposis colorectal carcinoma (HNPCC) is relatively high, but low in absolute terms. There are no good options for screening patients for small-bowel tumours. HNPCC patients presenting with complaints that could be due to obstruction should undergo gastroduodenoscopy, coloscopy or, if these yield negative results, wireless capsule endoscopy to reveal obstruction. In case of iron deficiency anaemia or symptoms that cannot immediately be related to an obstruction, one should be careful with a diagnostic laparotomy. In any other case the threshold for a diagnostic laparotomy should be quite low.
ISSN:0028-2162