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PubMed1999

Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9.

BACKGROUND: The phenotypic spectrum of familial adenomatous polyposis (FAP) varies from the classic appearance of hundreds of adenomatous colonic polyps in the young adult and early onset colorectal cancer, to the occurrence of sparse adenomas in the older adult, "attenuated" FAP, due to mutations at the 5' or 3' ends of the APC gene. AIMS: To investigate marked intrafamilial phenotypic variation occurring in a family with an APC gene mutation in exon 9. PATIENTS: An extended kindred of 22 people of whom 16 had colorectal neoplasia and/or were APC mutation carriers. RESULTS: Phenotypic manifestation varied from classic FAP to a complete lack of clinical or endoscopic, or bioptic disease in five people in three different generations. This occurred in four of them over two generations, in spite of having a confirmed 11 bp insertion causing a frame shift and stop codon (363) in exon 9 of the APC gene. CONCLUSIONS: At present, it is assumed that in this family there is alternative splicing of the APC gene, and/or unidentified modifying genetic factors. The family illustrates the importance of genetic testing in evaluating carrier status and not just clinical examination. This clinical observation also high- lights the dilemma in recognising the possible contribution of low penetrance germline APC mutations to what has been considered "sporadic" colorectal neoplasia.

Adenomatous Polyposis Coli↗

PubMed2005

Arteriovenous malformations in Cowden syndrome.

Cowden syndrome (OMIM No 158350) is a pleomorphic, autosomal dominant syndrome characterised by hamartomas in tissues derived from the endoderm, mesoderm, and ectoderm. It is caused by germline mutations in the PTEN gene and is allelic to the Bannayan-Riley-Ruvalcaba and Lhermitte-Duclos syndromes. The three syndromes are defined on clinical grounds but there is overlap in their definitions. The clinical features include trichilemmomas, verrucose lesions of the skin, macrocephaly, intellectual disability, cerebellar gangliocytoma, thyroid adenomas, fibroadenomas of the breast, and hamartomatous colonic polyps. Cutaneous haemangiomas are occasionally noted. Malignancies often arise in the affected tissues. Visceral arteriovenous malformations are a recognised component of the Bannayan-Riley-Ruvalcaba syndrome but have been reported rarely in Cowden syndrome. A family is described with a clinical diagnosis of Cowden syndrome, a familial frameshift mutation in the PTEN gene, and large visceral arteriovenous malformations. The association of these pleomorphic syndromes with arteriovenous malformations can be explained by the putative role of the PTEN gene in suppressing angiogenesis. Recognition of arteriovenous malformations as a clinical feature of Cowden syndrome has implications for the clinical management of patients with this disorder.

Adult↗

PubMed2006

Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function.

BACKGROUND: Hereditary mixed polyposis syndrome (HMPS) is characterised by colonic polyps of mixed histological types that are autosomal dominantly inherited and eventually lead to colorectal cancer (CRC). Study of the molecular basis of HMPS will enhance our knowledge of the genetic basis of the mixed polyposis-carcinoma sequence in both hereditary and sporadic CRC. METHODS/RESULTS: We performed a genomewide linkage search on 15 members of a three-generation HMPS family using the GeneChip Human Mapping 10K Array and identified a 7 cM putative linkage interval on chromosome 10q23. Subsequently, 32 members from two HMPS families were typed with nine microsatellite markers spanning the region and the linkage was confirmed with a maximum multi-point logarithm of the odds (LOD) score of 4.6 (p<0.001). The 10q23.1-10q23.31 haplotypes segregate with the disease in both families. We screened for mutations in four candidate genes within the linkage region and identified an 11 bp deletion in the bone morphogenesis protein receptor 1A (BMPR1A) gene in one family. CONCLUSIONS: Our results indicate that BMPR1A mutation accounts for HMPS. The data suggest that inactivating BMPR1A can initiate colorectal tumourigenesis via the mixed polyposis-carcinoma sequence.

Adenomatous Polyposis Coli↗

PubMed1995

Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.

Nine new causative mutations and seven previously characterised mutations of the APC gene of patients with familial adenomatous polyposis (FAP) were analysed for any genotype-phenotype correlations. The only clear genotype-phenotype correlation found was between the position of the mutation site and the presence or absence of congenital hypertrophy of the retinal pigment epithelium (CHRPE). A more distal mutation site was associated with an earlier age of onset of symptoms and a larger number of colonic polyps, but a notable amount of intrafamilial variation was observed.

Adenomatous Polyposis Coli↗

PubMed2002

Clinical and genetic studies of Birt-Hogg-Dubé syndrome.

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant cancer syndrome characterised by benign skin tumours, renal tumours, and spontaneous pneumothorax. The gene has been mapped to chromosome 17p11.2 and recently identified, expressing a novel protein called folliculin. We report the clinical and genetic studies of four sporadic BHD cases and four families with a total of 23 affected subjects. Haplotype analysis of these families using BHD linked markers showed they did not share the same affected alleles, excluding common ancestry. Mutation analysis of the BHD gene identified two germline mutations on exon 11 (c.1733insC and c.1733delC) in three of four families as well as two of four sporadic cases. A novel somatic mutation, c.1732delTCinsAC, was detected in a BHD related chromophobe renal carcinoma. Our results confirmed the (C)8 tract in exon 11 as a mutational hot spot in BHD and should always be considered for future genetic testing. Our observation also indicated that the second hit (of Knudson's two hit theory) in some BHD related tumours is in the form of somatic mutation rather than LOH. In a large French family in which eight affected subjects carry the c.1733delC mutation, a phenocopy who has multiple episodes of spontaneous pneumothorax was identified. A total of five mutation carriers (aged between 37 to 66) did not have any evidence of BHD features, suggesting either reduced penetrance or late age of onset of the disease. In addition, six out of eight affected subjects who have positive germline mutation have confirmed neoplastic colonic polyps, indicating that colorectal neoplasia is an associated feature of BHD in some families. Our studies have observed several interesting genetic features in BHD: (1) the poly (C) tract in exon 11 as a mutational hot spot; (2) the existence of phenocopy; (3) reduced penetrance or late age of onset of disease; (4) association with colorectal neoplasia in some families; and (5) somatic mutation instead of LOH as the second hit in BHD tumours.

Adult↗

PubMed2003

Iron deficiency anaemia: are the British Society of Gastroenterology guidelines being adhered to?

BACKGROUND: The British Society of Gastroenterology (BSG) issued guidelines on the investigation of iron deficiency anaemia (IDA) ensuring standardised and comprehensive gastrointestinal investigation in all patients. It was apparent that not all patients in the authors' hospital were investigated according to these guidelines. OBJECTIVE: To determine whether patients who were referred for upper gastrointestinal endoscopy for investigation of IDA were confirmed to be iron deficient, and whether the BSG guidelines were being fully implemented. METHODS: All patients referred for upper gastrointestinal endoscopy over an 18 month period on a computer database (Endoscribe) were reviewed. Haematology, biochemistry, and radiology results were obtained and the frequency of the various diagnoses recorded. RESULTS: A total of 320 patients (133 male; mean age 71.5 years) were initially referred for upper gastrointestinal endoscopy for investigation of IDA, of whom 95 were iron deficient. Of these, 44 (46%) had duodenal biopsies performed, three (7%) of whom were diagnosed with coeliac disease. Five patients were diagnosed with upper gastrointestinal carcinoma (one oesophageal, four gastric). Of the remaining 87 patients, 65 (75%) underwent lower gastrointestinal investigations with four having colorectal carcinoma, four colonic polyps, and one angiodysplasia. CONCLUSIONS: Duodenal biopsies were performed in less than half of the patients. In those not diagnosed with coeliac disease or upper gastrointestinal carcinoma, only three quarters underwent lower gastrointestinal assessment. Approximately 10% were diagnosed with gastrointestinal malignancy as a cause for their anaemia and in 66% of patients no gastrointestinal cause was found. All physicians need to be made fully aware of the BSG guidelines for investigation of IDA.

Aged↗

PubMed2003

Optical biopsy using tissue spectroscopy and optical coherence tomography.

'Optical biopsy' or 'optical diagnostics' is a technique whereby light energy is used to obtain information about the structure and function of tissues without disrupting them. In fluorescence spectroscopy, light energy (usually provided by a laser) is used to excite tissues and the resulting fluorescence provides information about the target tissue. Its major gastrointestinal application has been in the evaluation of colonic polyps, in which it can reliably distinguish malignant from benign lesions. Optical coherence tomography (OCT) has been used in the investigation of Barrett's epithelium (and dysplasia), although a variety of other applications are feasible. For example, OCT could assist in the identification and staging of mucosal and submucosal neoplasms, the grading of inflammation in the stomach and intestine, the diagnosis of biliary tumours and the assessment of villous architecture. OCT differs from endoscopic ultrasound, a complementary modality, in that it has a much higher resolution but lesser depth of penetration. The images correlate with the histopathological appearance of tissues, and the addition of Doppler methods may enable it to evaluate the vascularity of tumours and the amount of blood flow in varices. Refinements in these new optical techniques will likely make them valuable in clinical practice, although their specific roles have yet to be determined.

Animals↗

PubMed2006

Canadian consensus on medically acceptable wait times for digestive health care.

BACKGROUND: Delays in access to health care in Canada have been reported, but standardized systems to manage and monitor wait lists and wait times, and benchmarks for appropriate wait times, are lacking. The objective of the present consensus was to develop evidence- and expertise-based recommendations for medically appropriate maximal wait times for consultation and procedures by a digestive disease specialist. METHODS: A steering committee drafted statements defining maximal wait times for specialist consultation and procedures based on the most common reasons for referral of adult patients to a digestive disease specialist. Statements were circulated in advance to a multidisciplinary group of 25 participants for comments and voting. At the consensus meeting, relevant data and the results of voting were presented and discussed; these formed the basis of the final wording and voting of statements. RESULTS: Twenty-four statements were produced regarding maximal medically appropriate wait times for specialist consultation and procedures based on presenting signs and symptoms of referred patients. Statements covered the areas of gastrointestinal bleeding; cancer confirmation and screening and surveillance of colon cancer and colonic polyps; liver, biliary and pancreatic disorders; dysphagia and dyspepsia; abdominal pain and bowel dysfunction; and suspected inflammatory bowel disease. Maximal wait times could be stratified into four possible acuity categories of 24 h, two weeks, two months and six months. FUTURE DIRECTIONS: Comparison of these benchmarks with actual wait times will identify limitations in access to digestive heath care in Canada. These recommendations should be considered targets for future health care improvements and are not clinical practice guidelines.

Canada↗

PubMed2004

Genetic basis of cancer of the kidney: disease-specific approaches to therapy.

Studies during the past two decades have shown that kidney cancer is not a single disease; it is made up of a number of different types of cancer that occur in this organ. Clear cell renal carcinoma is characterized by mutation of the VHL gene. The VHL gene product forms a heterotrimeric complex with elongin C, elongin B, and Cul-2 to target hypoxia-inducible factors 1 and 2alpha for ubiquitin-mediated degradation. VHL-/- clear cell renal carcinoma overexpresses epidermal growth factor receptor and transforming growth factor alpha. Both hypoxia-inducible factor 1alpha and the epidermal growth factor receptor are potential therapeutic targets in clear cell renal carcinoma. Studies of the hereditary form of renal cell carcinoma (RCC) associated with hereditary papillary renal carcinoma (HPRC) determined that the c-Met proto-oncogene on chromosome 7 is the gene for HPRC and for a number of sporadic papillary RCCs. The HPRC c-Met mutations are activating mutations in the tyrosine kinase domain of the gene. The gene for a new form of hereditary RCC (Birt Hogg Dubé syndrome) associated with cutaneous tumors, lung cysts, and colon polyps or cancer has recently been identified. Studies are currently under way to determine what type of gene BHD is and how damage to this gene leads to kidney cancer. Individuals affected with hereditary leiomyomatosis renal cell carcinoma are at risk for the development of cutaneous leiomyomas, uterine leiomyomas (fibroids), and type 2 papillary RCC. The HLRC gene has been found to be the Krebs cycle enzyme, fumarate hydratase. Studies are under way to understand the downstream pathway of this cancer gene.

Adenocarcinoma, Clear Cell↗

PubMedDate not supplied

Management of periampullary adenoma.

The periampullary region is the most common site of adenomatous change in the small bowel, particularly in patients with familial adenomatous polyposis (FAP) syndromes. These lesions have been shown to progress to malignancy in a manor analogous to colonic polyps. Following colectomy, the periampullary region is the commonest site of gastrointestinal malignancy in FAP patients. The periampullary region is within easy reach of forward- and side-viewing endoscopes and therefore endoscopic surveillance in FAP patients is both easy and prudent. Furthermore, there is accumulating evidence that endoscopic resection and/or ablation are the treatment of choice for periampullary adenomas. However, the optimal timing of surveillance and best methods of ablation remain to be determined. This paper reviews the literature on the endoscopic management of periampullary adenoma as well as outlining our current approach to this challenging problem.

Adenoma↗

PubMed1999

Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene.

Two families with autosomal dominantly inherited desmoid tumors have recently been shown to have germline mutations at the 3' end of the APC gene. We subsequently identified an Amish family with autosomal dominantly inherited desmoid tumors. Genetic analysis performed on one family member, a 47-year-old man with multiple desmoid tumors and no colon polyps, revealed a protein truncating mutation in the middle of the APC gene. The truncating mutation is the result of a 337-bp insertion of an Alu I sequence into codon 1526 of the APC gene. The presence of a poly(A) tail at the 3' end of the insertion suggests that the Alu I sequence was inserted by a retrotranspositional event. Germline insertions of Alu I sequences have occasionally been reported to cause other genetic diseases including type I neurofibromatosis, hereditary site-specific breast cancer (BRCA2), and hemophilia B. However, this is the first report of a germline mutation of the APC gene resulting from an Alu I insertion.

Adenomatous Polyposis Coli↗

PubMed2002

Surveillance strategies in patients after polypectomy.

Colorectal cancer (CRC) is a major cause of cancer death in the Western world. It develops slowly over several years from premalignant lesions (most prominently adenomatous polyps) to invasive cancer. The molecular basis of CRC pathogenesis has been well characterized. The most effective method to prevent CRC is endoscopic polypectomy. However, adenomatous polyps are known to recur at significant rates. The aim of surveillance programs after polypectomy is to further reduce the incidence of CRC in individuals where precancerous lesions have been identified and treated. However, the medical risks and the costs of repeated examinations must be kept as low as possible. Therefore, the identification of patient subgroups with a particular low cancer risk who may be followed-up less frequently seems important. There is recent evidence that other colorectal lesions, namely flat and depressed type adenomas (F&D adenoma) and possibly some hyperplastic polyps and serrated adenomas may also carry a malignant potential which could influence our screening, treatment and surveillance strategies for the colorectum in the future. General surveillance guidelines regarding these entities have not been issued to date. This article will first discuss the biology, natural history, present surveillance recommendations and future issues for sporadic adenomatous polyps. Then, recent literature on F&D type adenomas, hyperplastic polyps and serrated adenomas will be reviewed with respect to their malignant potential and the potential necessity for treatment and surveillance of these lesions.

Adenoma↗

PubMed1987

Skin tags: localization and frequencies according to sex and age.

The relevant literature does not contain detailed numerical data about skin tags. We found 46% skin tag carriers in 750 unselected persons (25% males and 21% females). The risk of getting skin tags increases with age. The age of 50, however, seems to be a turning point, at which a stagnation of the increase is observed. The majority of the carriers had no more than 3 tags per localization; the most frequent localization was the axilla, followed by the neck. This study supplies objective data for the evaluation of skin tags as markers for colonic polyps and may provide standard values for future studies.

Adolescent↗

PubMed2002

Upper and lower gastrointestinal endoscopical investigation in elderly patients with iron deficiency anaemia.

Iron deficiency anaemia is frequently observed in male adults and postmenopausal women due to chronic occult bleeding, usually from the gastrointestinal tract. Practically, as endoscopical investigation of the gastrointestinal system is an invasive procedure, iron replacement treatment was generally started without investigation of the underlying aetiology even in first-line health institutions. This study evaluates the role of endoscopy in the investigation of the aetiology of anaemia in 95 patients (51 males, 44 females), aged 64.9+/-12.5 years (range 50-90 years). All patients having iron deficiency anaemia were investigated by upper gastrointestinal endoscopy and colonoscopy. Upper and lower gastrointestinal pathologies were seen in 10 (10.6%) and 55 (57.8%) patients, respectively. However, no gastrointestinal lesion was found in 30 (31.6%) patients with iron deficiency anaemia. Out of the 95 patients, 16 (16.9%) had erosive gastritis, 15 (15.8%) duodenal ulcer, 8 (8.4%) gastric ulcer, 7 (7.3%) gastric tumours, 7 (7.3%) oesophagitis. 5 (5.4%) colon tumours, 3 (3.2%) haemorrhoids, 2 (2.1%) non-tropical sprue, 1 (1%) colonic polyp, and 1 (1%) colitis. In the majority of elderly patients with iron deficiency anaemia, upper gastrointestinal system disease was found. In 12 (12.7%) patients in the study group, malignancies were detected. In elderly patients with iron deficiency anaemia, the aetiology should be highlighted before giving iron supplementation.

Aged↗

PubMed2004

Growth hormone inhibits apoptosis in human colonic cancer cell lines: antagonistic effects of peroxisome proliferator activated receptor-gamma ligands.

GH has antiapoptotic effects on several cells. However, the antiapoptotic mechanisms of GH on colonic mucosa cells are not completely understood. Peroxisome proliferator activated receptor-gamma (PPARgamma) activation enhances apoptosis, and a link between GH and PPARgamma in the colonic epithelium of acromegalic patients has been suggested. We investigated the effects of GH and of PPARgamma ligands on apoptosis in colonic cancer cell lines. Colonic cells showed specific binding sites for GH, and after exposure to 0.05-50 nm GH, their apoptosis reduced by 45%. The antiapoptotic effect was due to either GH directly or GH-dependent local production of IGF-1. A 55-85% reduction of PPARgamma expression was observed in GH-treated cells, compared with controls (P < 0.05). However, treatment of the cells with 1-50 microm ciglitazone (cig), induced apoptosis and reverted the antiapoptotic effects of GH by increasing the programmed cell death up to 3.5-fold at 30 min and up to 1.7-fold at 24 h. Expression of Bcl-2 and TNF-related apoptosis-induced ligand was not affected by either GH or cig treatment, whereas GH reduced the expression of Bax, which was increased by cig treatment. In addition, GH increased the expression of signal transducer and activator of transcription 5b, which might be involved in the down-regulation of PPARgamma expression. In conclusion, GH may exert a direct antiapoptotic effect on colonic cells, through an increased expression of signal transducer and activator of transcription 5b and a reduction of Bax and PPARgamma. The reduced GH-dependent apoptosis can be overcome by PPARgamma ligands, which might be useful chemopreventive agents in acromegalic patients, who have an increased colonic polyps prevalence.

Animals↗

PubMed2004

Systemic complications of acromegaly: epidemiology, pathogenesis, and management.

This review focuses on the systemic complications of acromegaly. Mortality in this disease is increased mostly because of cardiovascular and respiratory diseases, although currently neoplastic complications have been questioned as a relevant cause of increased risk of death. Biventricular hypertrophy, occurring independently of hypertension and metabolic complications, is the most frequent cardiac complication. Diastolic and systolic dysfunction develops along with disease duration; and other cardiac disorders, such as arrhythmias, valve disease, hypertension, atherosclerosis, and endothelial dysfunction, are also common in acromegaly. Control of acromegaly by surgery or pharmacotherapy, especially somatostatin analogs, improves cardiovascular morbidity. Respiratory disorders, sleep apnea, and ventilatory dysfunction are also important contributors in increasing mortality and are advantageously benefitted by controlling GH and IGF-I hypersecretion. An increased risk of colonic polyps, which more frequently recur in patients not controlled after treatment, has been reported by several independent investigations, although malignancies in other organs have also been described, but less convincingly than at the gastrointestinal level. Finally, the most important cause of morbidity and functional disability of the disease is arthropathy, which can be reversed at an initial stage, but not if the disease is left untreated for several years.

Acromegaly↗

PubMed2006

Resources and costs associated with incidental extracolonic findings from CT colonogaphy: a study in a symptomatic population.

CT colonography (CTC) is increasingly used to detect colonic polyps and cancers, but its impact in practice is also influenced by frequent detection of extracolonic lesions. We have previously documented the frequency and nature of such lesions. The current study was performed to assess the clinical resources and costs associated with the investigation and treatment of extracolonic lesions. We reviewed the reports of 225 consecutive CTC examinations carried out on patients with symptoms of bowel cancer. 116 of the 225 were reported to have one or more extracolonic findings. All 116 patients with an abnormality were followed up for 12-24 months. 24 patients underwent further actions (outpatient attendance, investigations, or surgical procedures) as a result of previously undiagnosed lesions unrelated to bowel cancer. The costs of these further actions were derived from the NHS Reference Costs manual 2004. The total cost for further investigations and interventions was 34,329 pounds sterling and the mean cost over the sample of 225 patients was 153 pounds sterling--more than the cost of the CTC itself. The costs were mainly generated by surgical procedures. Resources consumed as a result of extracolonic findings approximately doubled the costs of diagnostic CTC. These costs, along with inconvenience, anxiety, morbidity and occasionally even mortality suffered by patients, must be offset by the good done to some of those with sub-clinical but potentially lethal diseases.

Adult↗

PubMed2003

Finding the best from the rest: evaluation of the quality of patient information on the Internet.

INTRODUCTION: Information is of utmost importance for patients at risk of developing cancer who require regular screening. Quality assessment is vital to ensure correct information is published on the Internet. METHOD: A postal questionnaire was sent to patients under follow-up for Barrett's oesophagus and colonic polyps. Questions related to computer/Internet access, where patients had previously sought information, whether web-sites would be of use, and what information they would like displayed. A review of on-line patient literature for Barrett's oesophagus and colorectal adenomas was performed. RESULTS: Of the 200 questionnaires sent, 161 patients responded (80.1%). The majority of patients (88%, n = 141) wanted more information on their condition, with 45% (73) having home Internet access and a further 32% (52) having web access from other sources. Only 8% (12) had used the Internet as a source of information; however, the majority of patients (57%) would access a recommended web-site. The Barrett's search resulted in 10/200 sites with full information (i.e. score > 8/10 points). For colorectal polyps there were 12/200 sites. CONCLUSIONS: Accessing quality Internet health information is very time consuming. Recommended web-sites that provide the best information would help patients avoid being overwhelmed with irrelevant and confusing literature.

Barrett Esophagus↗