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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 -
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 -
Medicina (Kaunas, Lithuania) Aug 2022Multiple gastrointestinal stromal tumors (GISTs) are extremely rare entities that exist either as spontaneous GISTs or as part of various syndromes, such as Carney's... (Review)
Review
A Rare Case of Multiple Gastrointestinal Stromal Tumors Coexisting with a Rectal Adenocarcinoma in a Patient with Attenuated Familial Adenomatous Polyposis Syndrome and a Mini Review of the Literature.
BACKGROUND
Multiple gastrointestinal stromal tumors (GISTs) are extremely rare entities that exist either as spontaneous GISTs or as part of various syndromes, such as Carney's triad and type I neurofibromatosis (NF1). Attenuated familial adenomatous polyposis (AFAP) is a variant of familial adenomatous polyposis (FAP) with a milder clinical presentation. Both GISTs and AFAP have been reported to coexist with colorectal cancer, but the coexistence of GISTs and AFAP has never been reported in the literature before.
CASE REPORT
A 45-year-old male patient with known AFAP arrived scheduled for a total colectomy and ileo-rectal anastomosis due to the malignancy of one of the previously biopsied polyps of the upper rectum. Intraoperatively, multiple nodular tumors were found at the jejunum within a length of 45 cm, for which an enterectomy and enteroanastomosis were performed. A histopathological examination of the whole colectomy specimen confirmed the presence of multiple polyps in the large intestine along with a rectal invasive adenocarcinoma. At the same time, in the examined part of the small intestine, 15 GISTs sized from 0.5 to 2.0 cm of prognostic group I, were identified. The patient's postoperative course was uncomplicated.
CONCLUSION
Multiple GISTs may present as an asymptomatic disease, and the same thing is true for colorectal cancer. Therefore, the appropriate screening is crucial for entities such as AFAP, since the surgery was performed because of the malignant transformation in one of the polyps and revealed multiple GISTs, as well.
Topics: Adenocarcinoma; Adenomatous Polyposis Coli; Colorectal Neoplasms; Gardner Syndrome; Gastrointestinal Stromal Tumors; Humans; Male; Middle Aged; Rectal Neoplasms
PubMed: 36013583
DOI: 10.3390/medicina58081116 -
The British Journal of Surgery Jan 1995Juvenile polyposis is an uncommon condition characterized by the development of multiple juvenile polyps, predominantly in the colon but also in the rest of the... (Review)
Review
Juvenile polyposis is an uncommon condition characterized by the development of multiple juvenile polyps, predominantly in the colon but also in the rest of the gastrointestinal tract. The condition usually presents in childhood; only 15 per cent of patients present as adults. The rarer and often fatal form, namely, juvenile polyposis of infancy, is typified by diarrhoea, protein-losing enteropathy, bleeding and rectal prolapse. The more common form of juvenile polyposis (affecting the colon, stomach and small bowel) occurs in the first or second decade with rectal bleeding and anaemia. A family history of the condition is found in 20-50 per cent of patients with apparently an autosomal dominant trait. The gene for juvenile polyposis has not yet been identified. Epithelial dysplasia is common and the cumulative risk of colorectal cancer is > 50 per cent. Various extracolonic abnormalities may also occur. Most patients are treated surgically for colonic polyps, although endoscopic polypectomy is also an option. The rest of the gastrointestinal tract should be screened as should asymptomatic first-degree relatives.
Topics: Adenomatous Polyposis Coli; Child; Child, Preschool; Gastrointestinal Neoplasms; Humans; Intestinal Polyps; Polyps
PubMed: 7881943
DOI: 10.1002/bjs.1800820106 -
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 -
Clinical Journal of Gastroenterology Apr 2011Only two cases of rectal giant inflammatory polyposis with ulcerative colitis have been reported in the English literature and both concern children. This is the first...
Only two cases of rectal giant inflammatory polyposis with ulcerative colitis have been reported in the English literature and both concern children. This is the first report of a case of localized giant inflammatory polyposis of the rectum in an adult with indeterminate colitis. A 71-year-old man underwent sigmoidectomy due to stenosis of the sigmoid colon. Final histological diagnosis was indeterminate colitis. Three years following the first operation, a rectal tumor with giant polyposis was observed, and abdominoperineal resection was performed. Macroscopic and microscopic examination indicated a localized giant inflammatory polyposis of the rectum.
PubMed: 26190713
DOI: 10.1007/s12328-011-0213-1 -
Cureus Aug 2022Familial adenomatous polyposis (FAP) is a rare syndrome caused by adenomatous polyposis coli () gene mutation resulting in the development of hundreds of adenomatous...
Familial adenomatous polyposis (FAP) is a rare syndrome caused by adenomatous polyposis coli () gene mutation resulting in the development of hundreds of adenomatous colorectal polyps. The disease process usually manifests fully by the second decade of life. Total colectomy or restorative proctocolectomy is often required to prevent the development of colorectal adenocarcinoma. Routine surveillance following surgery is critical for the early detection of polyps or malignancy. We present a rare case of a 31-year-old male with a history of FAP status post total proctocolectomy with ileal pouch-anal anastomosis (IPAA) who presented with acute exacerbation of lower back pain and new-onset lower extremity paresthesia. Imaging demonstrated an aggressive T12 vertebral body lesion. Pathology following laminectomy demonstrated metastatic adenocarcinoma. Subsequent pouchoscopy revealed a distal 1.5-cm pedunculated lesion arising from remnant rectal tissue with pathology confirming moderately differentiated rectal adenocarcinoma. This patient underwent a prophylactic proctocolectomy 20 years prior to this admission but was lost to follow-up prior to any endoscopic evaluations. Despite postoperative surveillance guidelines and patient counseling, follow-up and recommended endoscopic evaluation are often inadequate. This case examines potential socioeconomic factors influencing the completion of surveillance endoscopy and also represents an opportunity to incorporate education and provide resources to patients with FAP to improve surveillance examinations and mitigate the development of preventable malignancies.
PubMed: 36185899
DOI: 10.7759/cureus.28591 -
Pharmacology & Therapeutics Jun 2012Intranasal administration is a non-invasive route for drug delivery, which is widely used for the local treatment of rhinitis or nasal polyposis. Since drugs can be... (Review)
Review
Intranasal administration is a non-invasive route for drug delivery, which is widely used for the local treatment of rhinitis or nasal polyposis. Since drugs can be absorbed into the systemic circulation through the nasal mucosa, this route may also be used in a range of acute or chronic conditions requiring considerable systemic exposure. Indeed, it offers advantages such as ease of administration, rapid onset of action, and avoidance of first-pass metabolism, which consequently offers for example an interesting alternative to intravenous, subcutaneous, oral transmucosal, oral or rectal administration in the management of pain with opioids. Given these indisputable interests, fentanyl-containing formulations have been recently approved and marketed for the treatment of breakthrough cancer pain. This review will outline the relevant aspects of the therapeutic interest and limits of intranasal delivery of drugs, with a special focus on opioids, together with an in-depth discussion of the physiological characteristics of the nasal cavity as well as physicochemical properties (lipophilicity, molecular weight, ionisation) and pharmaceutical factors (absorption enhancers, devices for application) that should be considered for the development of nasal drugs.
Topics: Absorption; Administration, Intranasal; Analgesics, Opioid; Humans; Models, Biological; Nasal Cavity; Nasal Mucosa; Pain
PubMed: 22465159
DOI: 10.1016/j.pharmthera.2012.03.003 -
Clinical Case Reports May 2021Familial adenomatous polyposis is an autosomal dominant disorder with familial predisposition. 25%-30% cases arise "de novo," without any clinical or genetic evidence.
Familial adenomatous polyposis is an autosomal dominant disorder with familial predisposition. 25%-30% cases arise "de novo," without any clinical or genetic evidence.
PubMed: 34026148
DOI: 10.1002/ccr3.4106 -
ACG Case Reports Journal Oct 2020Familial adenomatous polyposis (FAP) is a well-described genetic condition that results in the development of multiple benign and malignant lesions throughout the...
Familial adenomatous polyposis (FAP) is a well-described genetic condition that results in the development of multiple benign and malignant lesions throughout the gastrointestinal tract. The development of colorectal cancer is nearly universal in classic FAP, and total proctocolectomy after polyp development is recommended. We present a patient with FAP who was unable to undergo proctectomy. Despite careful removal of all rectal polyps before subtotal colectomy with ileorectal anastomosis, he developed 12 rectal polyps, including 4 advanced neoplastic lesions, within 73 days after initial endoscopic removal. This case highlights the rapid regrowth rate of colorectal adenomas in FAP.
PubMed: 33134403
DOI: 10.14309/crj.0000000000000469