Review articleCeliac disease and other precursors to small-bowel malignancy
Section snippets
Mortality and overall rate of malignancy
Adult celiac disease is associated with an increased mortality rate. Danish investigators compared the mortality rate of a group of 100 patients diagnosed with celiac disease between 1964 and 1982 with an age-matched and sex-matched general population [24]. The mortality rate exceeded that of the general population by a factor of 3.4. The increased mortality was due to gastrointestinal disorders including malignancies.
Logan et al [25] from Scotland demonstrated adults diagnosed with celiac
Adenocarcinoma of the small intestine
There have been fewer than 100 cases of small-bowel carcinoma reported in patients with small-bowel Crohn's disease. Most reports are from the United States [82], [83], [84], [85]; however, more recent reports have emanated from European centers [86], [87].
The distribution of cancers and age of presentation in Crohn's disease differs from small-bowel adenocarcinoma in the general population. Cancers in Crohn's disease follow the distribution of Crohn's disease in the intestine, with ileal
FAP
FAP, an autosomal dominant disorder, results in the formation of hundreds to thousands of colorectal polyps. Polyp formation starts in late childhood and colorectal adenocarcinoma inevitably occurs. As a result, colectomy is advised after confirmation of the presence of polyposis [96].
The disease results from mutations of the adenomatous polyposis coli (APC) gene, found on the long arm of chromosome 5 [97]. The APC gene acts as a tumor suppression gene. Many different mutations of the APC gene
Puetz-Jeghers syndrome
Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by hamartomatous gastrointestinal polyps and characteristic mucocutaneous melanin pigmentation [110], [111]. The condition is rare, about one tenth as common as FAP [96].
Recently, germline mutations of the STK 11 (serine threonine kinase 11) gene on chromosome 19p have been discovered to cause this disorder [112]. STK 11 acts as a tumor suppression gene potentially involved in the pathogenesis of hamartomatous polyps to
Summary
Small-intestinal malignancies are rare. Major risk factors for the development of these malignancies include celiac disease, which predisposes to both carcinoma and lymphoma. Crohn's disease patients have an increased risk of the development of adenocarcinoma, as do the inherited polyposis syndromes, FAP, and Peutz-Jehgers syndrome. Each of these conditions provides unique models for the development of malignancy.
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2018, Digestive and Liver DiseaseCitation Excerpt :For duodenal sites, ultrasonography should be performed to determine the possibility of tumor resection in the absence of metastasis (expert agreement). Predisposing diseases are Familial Adenomatous Polyposis (FAP), Hereditary Non Polyposis Colorectal Cancer (HNPCC) syndrome, Peutz-Jeghers syndrome, Crohn’s disease and celiac disease [10]. In celiac disease, the risk of developing small bowel adenocarcinoma is low (8 cases per 11,000 patients for the Swedish registry) [11].
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2013, Human PathologyCitation Excerpt :Recently, Goodman et al [4] reviewed 56223 patients who were diagnosed with all different types of small bowel tumors and found that the risk of small adenocarcinoma was higher in blacks and lower in Asian-Pacific Islanders compared with whites. Although most of the small bowel adenocarcinomas are sporadic, a subset of small bowel adenocarcinoma is associated with hereditary or inflammatory conditions such as familial adenomatous polyposis, hereditary nonpolyposis colorectal cancer syndrome (HNPCC), Crohn's disease, and celiac disease [5–7]. Among the patients with adenocarcinoma of small bowel, duodenal adenocarcinoma (DAC) is more common (55%) than the adenocarcinoma of the jejunum (18%) and ileum (13%) [8].
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2010, Annals of OncologyCitation Excerpt :The incidence of SBA (and particularly duodenal adenocarcinoma) is increasing [3, 4]. A minority of cases of SBA occur in patients with celiac disease, Crohn's disease or genetic predisposition [hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, familial adenomatous polyposis (FAP) and Peutz–Jeghers syndrome] [5]. SBA carries a poor prognosis: the all-stage disease-specific 5-year overall survival (OS) rate is ∼30% and the median OS time is ∼19 months [6].