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Orphanet Journal of Rare Diseases Oct 2009Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life.... (Review)
Review
Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC) cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after the appearance of the polyps. Nonspecific symptoms may include constipation or diarrhea, abdominal pain, palpable abdominal masses and weight loss. FAP may present with some extraintestinal manifestations such as osteomas, dental abnormalities (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas), congenital hypertrophy of the retinal pigment epithelium (CHRPE), desmoid tumors, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system). A less aggressive variant of FAP, attenuated FAP (AFAP), is characterized by fewer colorectal adenomatous polyps (usually 10 to 100), later age of adenoma appearance and a lower cancer risk. Some lesions (skull and mandible osteomas, dental abnormalities, and fibromas on the scalp, shoulders, arms and back) are indicative of the Gardner variant of FAP. Classic FAP is inherited in an autosomal dominant manner and results from a germline mutation in the adenomatous polyposis (APC) gene. Most patients (~70%) have a family history of colorectal polyps and cancer. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition, MUTYH-associated polyposis (MAP), which is characterized by a slightly increased risk of developing CRC and polyps/adenomas in both the upper and lower gastrointestinal tract. Diagnosis is based on a suggestive family history, clinical findings, and large bowel endoscopy or full colonoscopy. Whenever possible, the clinical diagnosis should be confirmed by genetic testing. When the APC mutation in the family has been identified, genetic testing of all first-degree relatives should be performed. Presymptomatic and prenatal (amniocentesis and chorionic villous sampling), and even preimplantation genetic testing is possible. Referral to a geneticist or genetic counselor is mandatory. Differential diagnoses include other disorders causing multiple polyps (such as Peutz-Jeghers syndrome, familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and Lynch syndrome). Cancer prevention and maintaining a good quality of life are the main goals of management and regular and systematic follow-up and supportive care should be offered to all patients. By the late teens or early twenties, colorectal cancer prophylactic surgery is advocated. The recommended alternatives are total proctocolectomy and ileoanal pouch or ileorectal anastomosis for AFAP. Duodenal cancer and desmoids are the two main causes of mortality after total colectomy, they need to be identified early and treated. Upper endoscopy is necessary for surveillance to reduce the risk of ampullary and duodenal cancer. Patients with progressive tumors and unresectable disease may respond or stabilize with a combination of cytotoxic chemotherapy and surgery (when possible to perform). Adjunctive therapy with celecoxib has been approved by the US Food and Drug Administration and the European Medicines Agency in patients with FAP. Individuals with FAP carry a 100% risk of CRC; however, this risk is reduced significantly when patients enter a screening-treatment program.
Topics: Adenomatous Polyposis Coli; Animals; Female; Humans; Male
PubMed: 19822006
DOI: 10.1186/1750-1172-4-22 -
Clinics in Colon and Rectal Surgery Jun 2016The development and refinement of proctectomy with ileal pouch-anal anastomosis (IPAA) since its introduction in the 1970s has made it the optimal procedure of choice in... (Review)
Review
The development and refinement of proctectomy with ileal pouch-anal anastomosis (IPAA) since its introduction in the 1970s has made it the optimal procedure of choice in patients with chronic ulcerative colitis and patients with familial adenomatous polyposis. However, it is a procedure that can be associated with significant morbidity. Pouch failure due to infection, mechanical, or functional disability represents a challenge to both surgeon and patient. Practicing surgeons who deal with revisional pouch surgery face a variety of intraoperative, postoperative, and reoperative challenges. Success requires a strategy that includes critical planning, preparation, specialized surgical techniques, and experience to achieve long-term success, minimize the adverse consequences of IPAA-related complications, and ensure solutions and hope to patients.
PubMed: 27247537
DOI: 10.1055/s-0036-1580724 -
Clinics in Colon and Rectal Surgery Dec 2016Familial adenomatous polyposis (FAP) syndromes make up fewer than 1% of patients diagnosed with colorectal cancer each year. Patients with familial polyposis syndromes... (Review)
Review
Familial adenomatous polyposis (FAP) syndromes make up fewer than 1% of patients diagnosed with colorectal cancer each year. Patients with familial polyposis syndromes including FAP, attenuated FAP, and MYH-associated polyposis (MAP), are an important group often cared for by colorectal surgeons. Registry and screening programs have been shown to improve survival in patients with adenomatous polyposis, as it allows patients to undergo surgical intervention prior to the development of colorectal cancer. There are several surgical options for the treatment of colorectal polyps in patients with adenomatous polyposis, so it is important to choose the appropriate procedure for each patient after discussing the risk of cancer in the rectal remnant, as well as bowel and sexual function in a predominantly young patient group. Regardless of procedure choice, long-term follow-up is important with yearly endoscopic evaluation of the pouch or remnant rectum, as well as appropriate screening for extracolonic malignancy. Adenomatous polyposis patients require an intense care regimen, but can have a normal lifespan with good quality when cared for appropriately.
PubMed: 31777463
DOI: 10.1055/s-0036-1584089 -
Clinics in Colon and Rectal Surgery Dec 2016Colorectal serrated polyps are intermediate lesions in the serrated neoplastic pathway, which account for up to 30% of colorectal cancers. This pathway is biologically... (Review)
Review
Colorectal serrated polyps are intermediate lesions in the serrated neoplastic pathway, which account for up to 30% of colorectal cancers. This pathway is biologically distinct from the adenoma-to-carcinoma sequence, with associated cancers exhibiting mutations in the oncogene, DNA promoter hypermethylation, and microsatellite instability. An evolving understanding of these unique lesions has led to the development of a more accurate classification, improved endoscopic identification, and tailored clinical management guidelines. This article reviews serrated polyps and serrated polyposis syndrome.
PubMed: 31777465
DOI: 10.1055/s-0036-1584088 -
Clinics in Colon and Rectal Surgery Dec 2016Hamartomatous polyps of the gastrointestinal tract can occur sporadically, however, for several hereditary syndromes, their presence is one of the major clinical... (Review)
Review
Hamartomatous polyps of the gastrointestinal tract can occur sporadically, however, for several hereditary syndromes, their presence is one of the major clinical features. Peutz-Jeghers syndrome, juvenile polyposis syndrome, and the PTEN hamartoma syndromes are autosomal dominant inherited disorders that predispose to formation of such polyps, especially in the colon and rectum. These can lead to increased colorectal cancer risk and should be followed and managed appropriately. In this article, the three major hereditary hamartomatous syndromes are described, including presentation, colorectal surveillance, and management.
PubMed: 31777464
DOI: 10.1055/s-0036-1582441 -
Clinics in Colon and Rectal Surgery Nov 2023Familial adenomatous polyposis (FAP) is an autosomal dominant disease caused by pathogenic germline adenomatous polyposis coli mutation, and characterized with multiple... (Review)
Review
Familial adenomatous polyposis (FAP) is an autosomal dominant disease caused by pathogenic germline adenomatous polyposis coli mutation, and characterized with multiple adenomas in the colon and the rectum. Various genetic variants have been confirmed to be associated with corresponding FAP phenotypes, which play important roles in the diagnosis and surgical treatment of FAP. Generally, proctocolectomy is recommended for FAP patients at the age of 20s. Exceptionally, for patients with attenuated FAP, high-risk of desmoid, chemoprevention therapy, or other circumstances, surgery can be postponed. With the wide application of minimal invasive surgery in colorectal cancer, laparoscopic, robotic surgery, and natural orifice specimen extraction are proved to be feasible for FAP patients, but high-level evidences are needed to confirm their safety and advantages. In the times of precise medicine, the surgical management of FAP should vary with individuals based on genotype, phenotype, and clinical practice. Therefore, in addition to innovation in surgical procedures, investigation in links between genetic features and phenotypes will be helpful to optimize the surgical management of FAP in the future.
PubMed: 37795461
DOI: 10.1055/s-0043-1767707 -
Diagnostics (Basel, Switzerland) Apr 2022Mucosal prolapse syndrome is also known as solitary rectal ulcer syndrome. It may either presents as an ulcer or polyp, which could mimic other pathological lesions such...
Mucosal prolapse syndrome is also known as solitary rectal ulcer syndrome. It may either presents as an ulcer or polyp, which could mimic other pathological lesions such as juvenile polyp, hyperplastic polyp, adenomatous polyp, polyp related inflammatory bowel disease and adenocarcinoma. It can pose as a diagnostic challenge to both the surgeons and pathologists due to the overlapping gross and histological features. The characteristic histological features of mucosal prolapse syndrome are fibromuscular obliteration of lamina propria and splayed hypertrophic muscularis mucosae. It can occur in a wide range of ages, including children and teenagers. Rectal bleeding is one of the common presenting symptoms. Here, we described two cases of mucosal prolapse syndrome presented as rectal polyposis and provide a discussion on its histological differential diagnosis.
PubMed: 35454014
DOI: 10.3390/diagnostics12040966 -
Clinics in Colon and Rectal Surgery Nov 2023The pathogenesis, clinical phenotype, treatment strategy, and family management of hereditary tumor syndromes are different from those of sporadic tumors. Nearly a... (Review)
Review
The pathogenesis, clinical phenotype, treatment strategy, and family management of hereditary tumor syndromes are different from those of sporadic tumors. Nearly a quarter of patients with colorectal cancer show significant familial aggregation and genetic predisposition, and 5 to 10% are associated with definite genetic factors. According to the clinical phenotype, it can be divided into nonpolyposis syndrome and polyposis syndrome. Among the polyposis syndrome patients with definite clinical symptoms, there are still some patients with unknown etiology (especially attenuated familial adenomatous polyposis), which is a difficult problem in clinical diagnosis and treatment. Therefore, for this rare disease, it is urgent to carry out multicenter studies, complete the gene variation spectrum, explore new pathogenic factors, and accumulate clinical experience. This article mainly introduces the research progress and related work of colorectal polyposis syndrome in China.
PubMed: 37795462
DOI: 10.1055/s-0043-1767708