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PubMed1975

Gut bacteria and their metabolic activities in familiar polyposis.

Earlier work had suggested that patients with large-bowel cancer can be characterized by carriage of clostridia capable of dehydrogenating the nucleus of steroids and by high faecal bile-acid concentrations. Familial polyposis is an inherited disease which untreated, will progress to cancer of the large bowel, and those affected might be expected to have these metabolic characteristics. However, enviromental factors seem to play no part in polyposis. Investigation of as yet unaffected children of known polyposis patients revealed that the gut flora of half of them did not degrade cholesterol in vivo andnor did flora from patients in whom polyposis had already been diagnosed. The reason for this is unknown, but if the same patients develop polyposis (i.e., they carry the abnormal gene) we would have a simple diagnostic test which could replace the continuing follow-up now required for the siblings and children of patients with polyposis.

Adult↗
PubMed2000

Inadequate dietary copper increases tumorigenesis in the Min mouse.

Multiple intestinal neoplasia (Min) mice are a good model for the investigation of the effects of dietary alterations on genetic susceptibility for intestinal cancer. In the current study, nursing dams and their pups were placed on an AIN-93G diet containing either 1 or 6 ppm copper. The pups were maintained on the same concentration of dietary copper after weanling until they were 13-weeks-old. Animals fed copper deficient diets had a significantly (P<0.0003) higher small intestine tumor incidence and a significantly (P<0.04) higher small intestine tumor burden than animals fed adequate dietary copper. Therefore, inadequate dietary copper can increase the spontaneous tumorigenesis that occurs in the Min mouse.

Animals↗
PubMed2003

Emergency medicine bedside ultrasound diagnosis of intussusception in a patient with chronic abdominal pain and unrecognized Peutz-Jeghers syndrome.

An adult patient presented to the Emergency Department (ED) with abdominal pain caused by intussusception. The diagnosis had not been made despite several prior evaluations for episodes of similar symptoms. The diagnosis was finally made by bedside ultrasound performed by the treating physicians in the ED. The patient's underlying condition of Peutz-Jeghers Syndrome with intestinal polyps was also previously undiagnosed. The discussion reviews and compares clinical aspects of intussusception in adults and children. Sonographic findings of intussusception and their pathological basis are described, and the accuracy of sonography in the diagnosis of intussusception is reviewed.

Abdominal Pain↗
PubMed1999

Allergy and other selected diseases and risk of colorectal cancer.

It has been reported that allergy and other diseases may be related to colorectal cancer risk. The aim of this study was to perform a systematic analysis using information about medical histories specifically to see if there was any relation between allergies or other medical conditions and colorectal cancer risk. A multicentric case-control study was conducted in six Italian areas between 1992 and 1996 on 1225 incident cases of colon cancer, 728 cases of rectal cancer and 4154 controls comparable with cases according to sex and age group, admitted for acute conditions to the same network of hospitals where cases had been identified. Unconditional logistic regression models including terms for sex, age, study centre, years of education, body mass index, physical activity, smoking, history of colorectal cancer in first-degree relatives and energy intake were used to estimate the odds ratios (OR) of colon and rectal cancer according to history of allergy and other selected diseases. The OR for history of allergy was 0.88 (95% confidence interval, CI, 0.67-1.14) for colon and 0.64 (95% CI, 0.44-0.92) for rectal cancer, and the inverse association was stronger when allergy was diagnosed at age 35 years or more, or less than 10 years before the cancer diagnosis. No clear pattern emerged in strata of age and sex. History of other selected diseases, including hypertension and cholelithiasis, was not related to colon or rectal cancer risk, though there was a moderate increase in the risk of colon cancer (OR = 1.18, 95% CI, 0.66-2.14) in patients with a history of intestinal polyps. This study lends support to the hypothesis that allergic individuals may be at a lower risk of developing colorectal cancer.

Adult↗
PubMed2000

Milk and dairy products in cancer prevention: focus on bovine lactoferrin.

Milk and dairy products constitute an important part of the western style diet. A large number of epidemiological studies have been conducted to determine effects of consumption on cancer development but the data are largely equivocal, presumably reflecting the different included components. It has been proposed that whereas fats in general could promote tumor development, individual milk fats like conjugated linoleic acid could exert inhibitory effects. There is also considerable evidence that calcium in milk products protects against colon cancer, while promoting in the prostate through suppression of circulating levels of 1,25-dihydroxyvitamin D3. Whey protein may also be beneficial, as shown by both animal and human studies, and experimental data have demonstrated that the major component bovine lactoferrin (bLF), inhibits colon carcinogenesis in the post-initiation stage in male F344 rats treated with azoxymethane (AOM) without any overt toxicity. The incidence of adenocarcinomas in the groups receiving 2% and 0.2% bLF were thus 15% and 25%, respectively, in contrast to the 57.5% control value (P<0.01 and P<0.05, respectively). Results in other animal models have provided further indications that bLF might find application as a natural ingredient of milk with potential for chemoprevention of colon and other cancers.

Adenocarcinoma↗
PubMed2000

A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor.

Desmoid tumors arise sporadically or as part of the extraintestinal manifestations of familial adenomatous polyposis (FAP). In FAP, two distinct clinical presentations of the desmoid phenotype are seen: 1) one or a few desmoid tumors present predominantly in the abdominal wall or the abdomen; 2) a florid proliferation of tumors early in life, mostly near the axial skeleton or extremities. These different phenotypes have been associated with different sites of germline mutations in the adenomatous polyposis coli gene (APC gene). We present a large, French-Canadian kindred with a florid desmoid tumor phenotype caused by a germline mutation at codon 2643-2644 of the APC gene. The phenotype was characterized by the early onset of multiple tumors, arising near the axial skeleton and in proximal extremities. The penetrance of desmoid tumors was near 100% in this kindred. However, the expression of the disease was variable amongst the different affected relatives. Many gene carriers had cutaneous cysts. Polyposis of the colon was rarely observed in the affected individuals and we did not document upper gastro-intestinal polyps. The mutant APC allele did not express a stable truncated protein in vivo. Molecular analysis of the proband's tumor DNA revealed a somatic inactivating mutation of the wild-type allele. Immunohistochemistry on the tumor also demonstrated elevated levels of beta-catenin. The present study demonstrates that this extreme 3' APC mutation is associated with a severely penetrant desmoid phenotype and attenuated polyposis coli. It also suggests the involvement of the beta-catenin pathway in the development of desmoid tumors in FAP. The natural history of the disease is variable between individuals, and surgical interventions have to be timed appropriately due to the frequent recurrences.

3' Untranslated Regions↗
PubMed1998

The APCI1307K allele and cancer risk in a community-based study of Ashkenazi Jews.

Mutations in APC are classically associated with familial adenomatous polyposis (FAP), a highly penetrant autosomal dominant disorder characterized by multiple intestinal polyps and, without surgical intervention, the development of colorectal cancer (CRC). APC is a tumour-suppressor gene, and somatic loss occurs in tumours. The germline T-to-A transversion responsible for the APC I1307K allele converts the wild-type sequence to a homopolymer tract (A8) that is genetically unstable and prone to somatic mutation. The I1307K allele was found in 6.1% of unselected Ashkenazi Jews and higher proportions of Ashkenazim with family or personal histories of CRC (ref. 2). To evaluate the role of I1307K in cancer, we genotyped 5,081 Ashkenazi volunteers in a community survey. Risk of developing colorectal, breast and other cancers were compared between genotyped I1307K carriers and non-carriers and their first-degree relatives.

Adenomatous Polyposis Coli Protein↗
PubMed1996

Localization of the gene for Cowden disease to chromosome 10q22-23.

Cowden disease (CD) (MIM 158350), or multiple hamartoma syndrome, is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. Its clinical features include a wide array of abnormalities but the main characteristics are hamartomas of the skin, breast, thyroid, oral mucosa and intestinal epithelium. The pathognomonic hamartomatous features of CD include multiple smooth facial papules, acral keratosis and multiple oral papillomas. The pathological hallmark of the facial papules are multiple trichilemmomas. Expression of the disease is variable and penetrance of the dermatological lesions is assumed to be virtually complete by the age of twenty. Central nervous system manifestations of CD were emphasized only recently and include megalencephaly, epilepsy and dysplastic gangliocytomas of the cerebellum (Lhermitte-Duclos disease, LDD). Early diagnosis is important since female patients with CD are at risk of developing breast cancer. Other lesions include benign and malignant disease of the thyroid, intestinal polyps and genitourinary abnormalities. To localize the gene for CD, an autosomal genome scan was performed. A total of 12 families were examined, resulting in a maximum lod score of 8.92 at theta = 0.02 with the marker D10S573 located on chromosome 10q22-23.

Breast Neoplasms↗
PubMed1979

Leiomyosarcomatosis of the gastrointestinal tract.

A case report of a patient suffering from diffuse leiomyosarcomatosis of the gastrointestinal tract is presented. The endoscopic features of the lesions localized in the stomach, the small bowel and the colon are compared with the radiological data. A description of the pathology of these polypoid lesions is given. The origin of this widespread leiomyosarcomatosis of the gastrointestinal system is discussed.

Colonic Neoplasms↗
PubMed2002

Severe intestinal bleeding caused by intestinal metastases of a primary angiosarcome of the thyroid gland.

A 75 year old male presented with gastrointestinal bleeding after resection of both upper lobes of the lungs because of metastases. One year ago an angiosarcoma was the reason for a complete removal of the thyroid gland. In esophago-gastro-duodenoscopy we found multiple hemorrhagically stained polyploids lesions in the postbulbar duodenum and jejunum. Colonoscopy showed isolated polyploid lesions of the right flexura. Because of persistent gastrointestinal bleeding a diagnostic laparotomy was done. Intraoperative intestinoscopy demonstrated multiple bleeding metastasis. To remove many of the bleeding lesions two longer intestinal segments of the jejunum and ileum were resected. The histology of the metastases showed arrangements of polygonal cells with prominent nucleoli and atypical mitosis. Immunohistochemistry identified CD 31, vimentin and factor VIII associated antigen. There was an erosion of the superficial intestinal mucosal cells with resulting hemorrhage; same histology had been found in the thyroid gland and the right upper lobe of lung. Eight days after surgery the patient died because of respiratory and circulatory insufficiency.

Aged↗