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Query: UMLS:C0009402 (colorectal cancer)
 53,228 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

FAP, if left untreated, results in colorectal cancer. Appropriate early surgical intervention is of utmost importance. With the reduction in mortality from colorectal carcinoma, an increasing number of patients with FAP need lifelong follow-up to screen for extracolonic manifestations. Today, the major causes of death in patients with FAP who are cured of colorectal cancer, or have had a colectomy before its development, are desmoid tumors and periampullary carcinomas. In family members at risk, screening with flexible sigmoidoscopy should be initiated in adolescence; symptoms of diarrhea and rectal bleeding would warrant an even earlier examination. The upper gastrointestinal tract should be assessed endoscopically at the time the diagnosis of FAP is made. If any polyps are detected, a biopsy is essential. If no gastric or duodenal polyps are found, repeated examinations at 3-5 year intervals probably suffice in asymptomatic patients. Surgically, colectomy will be necessary. It is usually deferred until late adolescence, when it is thought that the patient will be mature enough to handle the emotional aspects of the operation as well as the possible future morbidity due to the procedure. The presence or absence of rectal polyps as well as the site and depth of any invasive rectal carcinoma will determine the appropriate surgical procedure. Alternatives must be well understood by the physician and discussed carefully with the patient preoperatively.
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PMID:Familial adenomatous polyposis: case report and review of extracolonic manifestations. 131 Mar 47

Familial adenomatous polyposis (FAP) is a rare autosomal-dominant disease characterized by the development of more than 100 colorectal adenomatous polyps in young adults. In the absence of surgical intervention, colorectal cancer ineluctably develops in all affected patients. Recent progress in the isolation of the gene responsible for the disease allows to detect gene carriers before they present with symptoms attributable to polyps. Moreover, the presence of four or more lesions of congenital hypertrophy of the retinal pigment epithelium is an extracolonic manifestation of FAP allowing presymptomatic screening of this disease. An effective screening programme combined with the elaboration of a registry for FAP and prophylactic colectomy should reduce mortality related to colorectal cancer. Two other extracolonic manifestations of FAP remain major causes of death: abdominal desmoid tumors and duodenal adenocarcinoma. At this time, no effective medical or surgical therapy has been found to cure these lesions. Restorative proctocolectomy with ileal reservoir is another major advance. This procedure is now regarded as the treatment of choice for patients with FAP because radical removal of all premalignant colorectal mucosa eliminates the risk of subsequent development of a colorectal adenocarcinoma.
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PMID:[Familial adenomatous polyposis: what is new for the clinician?]. 133 41

Familial adenomatous polyposis is a generalized growth disorder. The predominant cause of death is, however, colorectal cancer in the untreated patient. Prophylactic colectomy, whether it be proctocolectomy and ileostomy, colectomy with ileorectal anastomosis, or colectomy with an ileoanal pouch procedure, will dramatically reduce the mortality from large bowel cancer. It is important, however, to realize that because of the generalized nature of this condition and the possibility of developing extracolonic malignancy, the surgical approach chosen should not be considered one that will necessarily cure the disease. Colectomy with ileorectal anastomosis still leaves the potential for rectal cancer. However, death from rectal cancer is distinctly uncommon. The risk of death following ileorectal anastomosis from rectal cancer is actually less than the risk of dying from cancer of the duodenum or from desmoid tumors. Both of these lesions are unpredictable in patients with familial adenomatous polyposis, and usually occur following the patient's prophylactic colectomy. With this low incidence of death from rectal cancer following ileorectal anastomosis it would seem to be debatable whether the complexities of the ileoanal pouch procedure together with its longer recovery and higher complication rate are justified in the routine management of young people with an early diagnosis of familial adenomatous polyposis.
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PMID:Ileorectal anastomosis--familial adenomatous polyposis. 166 13

Familial adenomatous polyposis is a generalized growth disorder. It manifests itself in a catastrophic way with the inevitable development of colorectal cancer if left untreated. The aim of clinical management should be to detect this disease at its earliest possible stage by treatment of the family as a unit and identification of those at risk with appropriate screening. Early surgical intervention with, most commonly, colectomy with ileorectal anastomosis or, in more advanced cases, with colectomy, rectal mucosectomy and ileoanal pouch procedure is appropriate. Following colorectal cancer the major risks of death from this disease include upper gastrointestinal cancer, desmoid tumour and a number of other malignancies throughout the body. The exact magnitude of the risk of malignant degeneration of these extracolonic manifestations is as yet uncertain. Surveillance is required particularly for upper gastrointestinal adenomas, as there is a significant risk for the development of duodenal carcinoma and it is obvious that prophylactic colectomy alone does not cure this disease predictably. The role of a familial polyposis registry in managing these patients is important not only in maintaining compliance with surveillance and therefore early detection of the disease but also in educating the family members and gaining long-term follow-up data on these cases to more accurately define the risk of death from extracolonic malignancy.
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PMID:Clinical management of familial adenomatous polyposis. 255 57

Familial adenomatous polyposis (FAP) affects around 1 in 10,000 individuals; the gene for this condition was recently shown to be located on chromosome 5, and it is only a matter of time before its precise location and function are determined, making prephenotypic, and even prenatal, diagnosis more generally available and reliable. In the mean time, care of FAP families will continue to depend on careful registration of family information, prophylactic bowel surgery and surveillance for other potentially serious manifestations of the disease. Upper gastrointestinal malignancies and desmoid tumours have overtaken colorectal cancer as the leading causes of death in some centres. Other dominantly-inherited colorectal cancer syndromes produce less striking phenotypes, but affect far more individuals than FAP. It appears that there are two patterns of hereditary non-polyposis colorectal cancer (HNPCC) syndromes, one involving cases of bowel cancer alone, the other associated with breast and gynaecological cancers; these may prove to be variable expressions of a common gene abnormality. More effort is required by clinicians managing cases of colorectal cancer to identify affected families in order to offer surveillance and appropriate treatment in the hope that such measures may prevent cancer in family members.
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PMID:Familial colorectal cancer and familial adenomatous polyposis. 255 47

Colorectal cancer is the second most common cancer in the United Kingdom and other developed countries in the West. Although it is usually not familial, there is a rare dominantly inherited susceptibility to colon cancer, familial adenomatous polyposis (FAP; also often previously called familial polyposis coli). During adolescence affected individuals develop from a few hundred to over a thousand adenomatous polyps in their large bowel. These are sufficiently likely to give rise to adenocarcinomas to make prophylactic removal of the colon usual in diagnosed FAP individuals. Adenomas may occur elsewhere in the gastrointestinal tract and the condition is often associated with other extracolonic lesions, such as epidermoid cysts, jaw osteomata and fibrous desmoid tumours. Adenomata have been suggested to be precancerous states for most colorectal tumours. Knudson has suggested that the mutation for a dominantly inherited cancer susceptibility may be the first step in a recessive change in the tumour cells, and that the same gene may be involved in both familial and non-familial cases of a given tumour. Following up a case report of an interstitial deletion of chromosome 5 in a mentally retarded individual with multiple developmental abnormalities and FAP, we have now shown that the FAP gene is on chromosome 5, most probably near bands 5q21-q22.
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PMID:Localization of the gene for familial adenomatous polyposis on chromosome 5. 303 73

Familial adenomatous polyposis (FAP) is a dominantly inherited genetic disorder predisposing to colon cancer through the early development of multiple adenomatous polyps in the large bowel. FAP is not restricted to the colon and rectum, but is a more complex disease which can potentially affect almost any organ not only with benign tumours but also with life threatening carcinomas. Desmoid tumours and gastroduodenal polyps and cancer are the two more worrying extracolonic manifestations of FAP. Recent advances in FAP knowledge, such as the report of congenital hypertrophy of the retinal pigment epithelium (CHRPE) or the APC gene identification, are very useful for screening and long-term follow-up of the patients through regional or national registries. Nutritional and pharmacological intervention trials are under way to assess potential new medical treatments of FAP. Surgery is still the only effective treatment for colorectal cancer prevention in FAP. The choice of a surgical procedure is controversial, but the introduction of total proctocolectomy with ileal pouch-anal anastomosis can be considered as a major advance in surgical treatment of FAP during the last decade.
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PMID:The clinical [corrected] background of familial adenomatous polyposis. History, epidemiology, diagnosis and treatment. 757 88

Causes of death were evaluated among 350 deceased patients with familial adenomatous polyposis (FAP) recorded in the Italian Polyposis Registry: 78.1% were due to colorectal cancer, 9.5% to extracolonic cancer (more than half of the upper gastrointestinal tract), 3.6% to desmoid tumors, and 8.8% to other causes. The age at diagnosis among 604 patients was studied in relation to presence of symptoms at presentation and presence of colonic cancer at surgery. In asymptomatic patients younger than 30 years the risk of colonic cancer was 3.3% and in symptomatic patients older than 40 it was 80%. A life-table analysis showed that postsurgical survival among patients without cancer at colectomy was 68% after 30 years, whereas that of patients with cancer was 41% after 10 years. The alternative prophylactic treatments of total colectomy with ileorectal anastomosis versus total proctocolectomy (IRA vs. IAA) were compared in terms of postsurgical survival. Both treatments showed a survival of 83% after 10 years. The risk of cancer in the rectal stump after IRA was 14.5% after 15 years and 25.2% after 25 years; the corresponding risks of dying from it were 4.3% and 9.3%, respectively.
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PMID:Causes of death and postsurgical survival in familial adenomatous polyposis: results from the Italian Registry. Italian Registry of Familial Polyposis Writing Committee. 808

The life-threatening event of early colorectal cancer in FAP patients may effectively be prevented by prophylactic colectomy. Desmoid tumors and periampullary carcinoma are now becoming the most frequent causes of death in FAP patients. Since the establishment of the Heidelberg polyposis registry in January 1991 we evaluated the frequency of desmoid tumors in 171 prospectively reexamined FAP patients. 29 patients (17%) with desmoid tumors were identified. In our series R0-resection with a wide security margin was performed in 12 cases, 3 of which developed a desmoid recurrence, 8 are free of desmoids and one treated for an intraabdominal desmoid states being well but refuses a radiological reevaluation. Tumor debulking was performed in 6 patients and led to an aggressive desmoid progression in 4 patients despite additional postoperative administration of tamoxifen and sulindac. Nonsurgical treatment with tamoxifen and sulindac seemed beneficial in 5 of 7 patients, 4 showed a stagnation of tumor growth, a reduction of an abdominal wall desmoid was documented in one female with a further intraabdominal desmoid. In life-threatening cases chemotherapy and radiation therapy may be considered. In two females radiation therapy resulted in a remarkable tumor reduction. The operative trauma of previous colectomy is considered the most relevant predisposing external factor inducing desmoid growth in FAP patients. 50% (11/22) of the desmoid tumors in our series were diagnosed within the first two years postoperatively, and 72% (18/22) of the desmoids developed within the first four years after colectomy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Desmoid tumors in patients with familial adenomatous polyposis (FAP). Clinical and therapeutic observations from the Heidelberg polyposis register]. 852 53

The purpose of this article is to discuss the advantages and disadvantages of surgical procedures designed to eliminate the risk of colorectal cancer, the surgical treatment of extracolonic polyps, and the management of desmoid tumors.
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PMID:Operations for familial adenomatous polyposis. 882 26


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