Materiały źródłowe

• #1 Familial Adenomatous Polyposis (FAP): Symptoms, Diagnosis, Risks

  https://my.clevelandclinic.org/health/diseases/16993-familial-adenomatous-polyposis-fap

  Familial adenomatous polyposis (FAP) is a hereditary syndrome that raises your risk of developing colorectal cancer to nearly 100%. […] To manage this risk, healthcare providers usually recommend complete removal of the colon (total colectomy) and sometimes the rectum, too (proctocolectomy). […] Diagnosis of FAP is based on having at least 100 polyps, or 20 for AFAP, and the APC mutation. […] If you want to know if you’ve inherited the APC gene mutation, you can find out through genetic testing. […] Treatment for FAP involves lifelong surveillance and, eventually, surgery. […] Most people with classic FAP will have a total colectomy sometime in their late teens to early thirties. […] Your healthcare team will advise you on how often to get screening tests for different types of tumors based on your personal risk factors.

• #1 Diagnosis, surveillance, and treatment strategies for familial adenomatous polyposis: rationale and update

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5019104/

  Familial adenomatous polyposis is characterized by the development of multiple (100) colorectal adenomas throughout the colorectum. This disorder can be caused by a germline mutation in the adenomatous polyposis coli gene and can be diagnosed either clinically or genetically. […] The diagnosis of FAP relies primarily on clinical findings on the number and history of colorectal adenomatous polyps. Individuals with 100 or more polyps, or with fewer than 100 polyps but with a family history of FAP, are clinically diagnosed with FAP. […] Genetic testing should be performed for certain indications including confirmation of the diagnosis of FAP and presymptomatic diagnosis of individuals 10 years of age or older who are at risk for FAP. […] The likelihood of detecting an APC mutation is highly related to the severity of polyposis and the family history. Patients with an FAP phenotype are significantly more likely to have an APC mutation than patients with an AFAP phenotype.

• #1 Familial Adenomatous Polyposis – The Jackson Laboratory

  https://www.jax.org/education-and-learning/clinical-and-continuing-education/clinical-topics/cancer-resources/fap-and-afap

  A pathogenic variant (mutation) that is identified by molecular genetic testing of the APC gene. […] A diagnosis of FAP is now established by molecular genetic testing. In the absence of genetic testing, a clinical diagnosis can be made if an individual has early onset of 100 or more adenomatous colon polyps. […] There are no clinical diagnostic criteria for AFAP. Generally, a clinical diagnosis is suspected when an individual has between 10 and 99 adenomatous colon polyps, or more than 100 polyps diagnosed at an older age than that expected for FAP (age 35-40 or older). […] Clinical testing includes gene sequencing and deletion/duplication analysis of, most often using a multigene panel. Gene sequencing will identify up to 90% of individuals with FAP/AFAP, and deletion/duplication testing an additional 8-12%.

• #1 Familial adenomatous polyposis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis/

  Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. […] The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. […] The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years. […] Mutations in the APC gene cause both classic and attenuated familial adenomatous polyposis. […] When familial adenomatous polyposis results from mutations in the APC gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. […] When familial adenomatous polyposis results from mutations in the MUTYH gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

• #1 Familial Adenomatous Polyposis: Alarming Symptoms, Causes, Types, Diagnosis and Treatment – OncoDaily

  https://oncodaily.com/oncolibrary/cancer-types/familial-adenomatous-polyposis

  Colonoscopy is one of the most effective diagnostic tools for FAP, providing a direct view of the colon and rectum. In patients with classic FAP, colonoscopy often reveals hundreds to thousands of polyps by adolescence. This procedure is highly sensitive, allowing for the detection of even small polyps, and is critical for both diagnosis and ongoing surveillance. […] The sensitivity of genetic testing for APC mutations exceeds 90% in individuals with classic FAP. Similarly, colonoscopy has a high accuracy rate, detecting polyps as small as 1 mm in size. According to a 2023 study, early detection through colonoscopy can lead to a 99% prevention rate of colorectal cancer when combined with surgical treatment. […] Several laboratory tests and imaging methods complement genetic testing and endoscopy to diagnose and monitor FAP: Fecal occult blood test (FOBT): This test detects hidden blood in the stool, which may be a sign of polyps or colorectal cancer. While FOBT is not diagnostic for FAP, it is often used to detect complications arising from polyps.

• #1 Familial Adenomatous Polyposis (FAP): Symptoms, Diagnosis, Risks

  https://my.clevelandclinic.org/health/diseases/16993-familial-adenomatous-polyposis-fap

  For classic FAP, guidelines recommend yearly colonoscopies starting at age 10 and continuing until your colectomy. […] After your colectomy, you’ll need to continue with regular sigmoidoscopies, examinations of the end of your GI (gastrointestinal) tract. […] Without timely treatment, the median life expectancy is 42 years. […] But with appropriate care, you can live a normal life.

• #1 Familial Adenomatous Polyposis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538233/

  Genetic testing is recommended if colonoscopy reveals over 20 adenomatous polyps or if FAP-associated cancers are detected in a patient. […] According to National Cancer Comprehensive Network guidelines, patients who test positive for an APC gene mutation should undergo annual sigmoidoscopy or colonoscopy from age 10 to 15. […] Screening for extracolonic manifestations of FAP is essential and includes the following measures: Upper endoscopy to examine the stomach and duodenum at 20 to 25 years. […] The management of FAP varies depending on the presence and severity of both colonic and extracolonic manifestations of the disease. […] Definitive surgical management of FAP involves removing the colon and rectal tissue at risk for polyposis. […] The choice of surgical procedure depends on several factors, including the extent of the polyp burden, family history of the disease, and patient preferences. […] Genetic testing for APC gene mutations is essential to confirm the diagnosis in suspected cases and identify at-risk family members.

• #1 Familial Adenomatous Polyposis: Alarming Symptoms, Causes, Types, Diagnosis and Treatment – OncoDaily

  https://oncodaily.com/oncolibrary/cancer-types/familial-adenomatous-polyposis

  Familial adenomatous polyposis (FAP) is a hereditary disorder caused by a mutation in the APC gene, leading to the development of hundreds to thousands of colorectal polyps. If left untreated, nearly all cases of FAP progress to colorectal cancer, making early detection and management critical. […] Early and accurate diagnosis of familial adenomatous polyposis (FAP) is crucial due to the high likelihood of progression to colorectal cancer if left untreated. Diagnosis relies on a combination of genetic testing and endoscopic procedures, which together help confirm FAP and guide treatment strategies. […] Genetic testing is the gold standard for diagnosing FAP, as the condition is caused by mutations in the APC gene. Studies indicate that up to 80% of FAP cases are linked to detectable mutations in this gene. Genetic testing typically involves a blood test or buccal swab to identify these mutations. It is recommended for individuals with a family history of FAP or those who exhibit early symptoms, such as rectal bleeding or multiple colon polyps. Early genetic testing allows for timely intervention and close monitoring, significantly improving outcomes.

• #1 Familial Adenomatous Polyposis: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/175377-overview

  Familial adenomatous polyposis (FAP) is the most common adenomatous polyposis syndrome. It is an autosomal dominant inherited disorder characterized by the early onset of hundreds to thousands of adenomatous polyps throughout the colon. If left untreated, all patients with this syndrome will develop colon cancer by age 35-40 years. In addition, an increased risk exists for the development of other malignancies. […] If a patient with a suspected polyposis syndrome undergoes genetic testing and does not have an APC gene mutation, MYH gene testing should be performed to assess for MAP, as 10%-20% of patients who do not have an APC gene mutation have biallelic MYH gene mutations. […] The mean age at which colorectal cancer develops in patients with classic FAP is 39 years. Patients with adenomatous polyposis itself often are asymptomatic. […] The principal cause of mortality is colorectal cancer, which develops in all patients unless they are treated.

• #1 Diagnosis, surveillance, and treatment strategies for familial adenomatous polyposis: rationale and update

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5019104/

  Genetic testing for the APC gene mutation is one of the screening strategies for FAP. Individuals with a family history of FAP (first-degree relatives of FAP patients) should undergo genetic counseling and screening for FAP between the ages of 10 and 12 years to identify carriers of the APC gene mutation. […] Surveillance and treatment strategies should be determined on the basis of each patient’s personal history.

• #1 Familial adenomatous polyposis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/familial-adenomatous-polyposis/diagnosis-treatment/drc-20372446

  You’re at risk of familial adenomatous polyposis if you have a parent, child, brother or sister with the condition. If you’re at risk, it’s important to be screened frequently, starting in childhood. Annual exams can detect the growth of polyps before they become cancerous. […] A simple blood test can determine if you carry the abnormal gene that causes FAP. Genetic testing may also detect whether you’re at risk of complications of FAP. Your doctor may suggest genetic testing if: […] Ruling out FAP spares at-risk children years of screening and emotional distress. For children who do carry the gene, appropriate screening and treatment greatly reduce the risk of cancer. […] Your doctor may recommend thyroid exams and other tests to detect other medical problems that can occur if you have FAP.

• #1 Familial Adenomatous Polyposis: Alarming Symptoms, Causes, Types, Diagnosis and Treatment – OncoDaily

  https://oncodaily.com/oncolibrary/cancer-types/familial-adenomatous-polyposis

  Genetic Testing: In addition to diagnosing FAP, genetic tests such as multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS) allow the identification of subtle APC mutations or deletions, which may not be detected through traditional methods. NGS has improved the identification of mutations that were previously missed in patients with negative genetic results but a high clinical suspicion of FAP.

• #1 Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study | European Journal of Human Genetics

  https://www.nature.com/articles/s41431-024-01585-z

  The results highlight the increased diagnostic yield made possible by supplementing a NGS gene panel with subsequent WGS and/or searching for mosaicism. […] Our study also demonstrates that CP can have genetic causes other than PV in APC. […] This shows that genetic testing is essential for offering a precise diagnosis and personalized surveillance, including additional surveillance at extraintestinal sites. […] We conclude that genetic analyses are crucial for a precise diagnosis and tailored disease surveillance, as well as the accurate assessment of at-risk family members. Using a NGS panel, WGS, and screening for mosaicism, the PV detection frequency in families with CP is now over 90%.

• #1 Age and manifestation related symptoms in familial adenomatous polyposis | BMC Cancer | Full Text

  https://bmccancer.biomedcentral.com/articles/10.1186/1471-2407-5-24

  To identify early symptoms of familial adenomatous polyposis with a view to improve early diagnosis and treatment. Diagnosis on the basis of genetic testing is usually limited to where there is a known family history, so FAP is more usually diagnosed on clinical grounds. Except for those identified via FAP registers, the majority of patients are symptomatic at the time of diagnosis. […] FAP was diagnosed clinically on the basis of symptoms in 84% (120/143) of these patients. Most presented with intestinal symptoms such as colonic bleeding (68%) and diarrhea (42%). […] The commonest presenting features of FAP are alteration of bowel habit and rectal bleeding, but both are found in many other conditions. Patients with these findings need immediate endoscopy to allow prompt diagnosis and prophylactic surgery.

• #1 Familial adenomatous polyposis | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/familial-adenomatous-polyposis-1?embed_domain=hackmd.io%2525252525252f%25252525252540yipuafecsl2jsu8smr5njq%2525252525252fbnjhjgjghjghjghradiopaedia-icon-144.png&lang=us

  Familial adenomatous polyposis syndrome (FAPS) is characterized by the presence of hundreds of adenomatous polyps in the colon. It is the most common of the polyposis syndromes. […] Familial adenomatous polyposis syndrome affects 1 in 10,000 people. The average age of presentation is 16 years. […] Typical symptoms and signs include rectal bleeding, diarrhea, abdominal pain, anemia, and/or mucosal discharge. Polyps usually develop around puberty. […] Familial adenomatous polyposis syndrome is characterized by the presence of hundreds or thousands of colonic adenomatous polyps, usually tubular or tubulovillous. The rectum is occasionally spared. Less commonly they affect the small bowel and stomach. […] Familial adenomatous polyposis syndrome accounts for 0.5% of colorectal cancer cases with ~7% of familial adenomatous polyposis carriers developing colorectal cancer by age 21, and almost every carrier developing colorectal cancer by 35-40 years. […] Total colectomy or proctocolectomy with ileoanal anastomosis is generally considered the surgical treatment of choice.

• #1 Age and manifestation related symptoms in familial adenomatous polyposis | BMC Cancer | Full Text

  https://bmccancer.biomedcentral.com/articles/10.1186/1471-2407-5-24

  The diagnosis of FAP was established clinically if more than 100 polyps were detected endoscopically in the colorectum. […] The diagnosis of FAP was made on the basis of clinical symptoms in 66% of patients (94/143). Diagnosis was incidental in 6% (9/143) and the reasons are unknown in 8% (11/143). […] Most patients (53%, 76/143) were between 20 and 40 years of age at primary diagnosis, of whom 75% (58/76) had symptoms. […] In summary, we found no symptoms specific for FAP in our patient population. Yet it was possible to correlate several symptoms with disease in our age groups. In a few cases, extracolonic manifestations were the first noticeable changes. Due to their young age and mostly moderate symptoms, patients younger than 40 years of age with FAP are not easily identifiable in routine gastrointestinal practice. In all patients who present with the gastrointestinal symptoms we describe, the first diagnostic step should be rectoscopy, followed by complete colonoscopy to exclude FAP. Patients over 40 years old in whom inherited colorectal cancer is suspected, even without rectal manifestations, should generally undergo colonoscopy earlier than recommended for the general population. In patients of all age groups genetic testing should be recommended in order to allow presymptomatic testing in their sibs and offspring. Family members with positive tests and all persons at risk from families where the mutation could not be identified must be examined and monitored by clinical registers.

• #1 Familial Adenomatous Polyposis Workup: Approach Considerations, Imaging Studies, Laboratory Studies

  https://emedicine.medscape.com/article/175377-workup

  The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. […] When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. […] Genetic testing for a germline mutation in the APC gene should be considered in individuals with 10-20 adenomas in their lifetime, furthermore in patients with a strong family history of polyposis; larger numbers of adenomas is associated with a greater likelihood of FAP. […] Representative polyps should be removed by endoscopic polypectomy to confirm the diagnosis by histologic examination.

• #1 Familial adenomatous polyposis | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-22

  Genetic testing is mainly used for screening and the presymptomatic early diagnosis of at-risk family members. […] Today, a number of genetic tests are available to test for APC germline mutations. […] The mutation detection rate, when full gene sequencing is performed, is 70%. […] When the family’s specific APC mutation is identified, genetic testing of all first degree relatives should be performed even when the parents test negative. […] In approximately 20-30% of patients no germline mutation can be found, although the success is improving with extensive testing. […] The genetic alteration in AFAP is associated with APC mutations occurring most commonly at the 5′ or at the 3′ end of the gene proximal to codon 1517 or distal to codon 1900. […] The diagnosis depends on the correct histological classification of the polyps. Dysplastic changes occurring in a non-adenomatous polyp can be mistakenly identified as a multiple adenoma syndrome compatible with FAP.

• #1 Familial adenomatous polyposis: Screening and management of patients and families – UpToDate

  https://www.uptodate.com/contents/familial-adenomatous-polyposis-screening-and-management-of-patients-and-families

  Individuals at-risk for FAP include: […] First-degree relatives of those with FAP. […] Individuals with >10 cumulative colorectal adenomas or colorectal adenomas in combination with extracolonic features associated with FAP (eg, duodenal/ampullary adenomas, desmoid tumors, papillary thyroid cancer, retinal pigment epithelium hamartomas associated with FAP (RPEH-FAP), epidermal cysts, or osteomas).

• #1 Familial Adenomatous Polyposis (FAP) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/familial-adenomatous-polyposis

  How is familial adenomatous polyposis diagnosed? […] Children are tested for familial adenomatous polyposis (FAP) by performing a colonoscopy. A doctor uses a long, flexible tube with a light and camera on the end to look inside the rectum and up into the large intestine. An upper GI endoscopy is often done at the same time. An upper GI endoscopy also uses a long, flexible tube but looks down into the esophagus (food tube), stomach, and small intestine. […] Another way to check for FAP is by genetic testing. Detection of the gene mutation is very accurate, detecting approximately 95 percent of cases and with 98 percent accuracy. Other screening studies may include radiology imaging. […] Children should be screened for FAP if there is a family history of FAP or colon cancer at a young age, or if they have any unusual growths or lesions. An initial screening should be done: […] By 8 to 10 years of age for a child with a high-risk family history […] By 10 to 12 years of age for an average-risk patient […] At the time of first symptoms.

• #1 Familial Adenomatous Polyposis – The Operative Review Of Surgery

  https://operativereview.com/familial-adenomatous-polyposis/

  Diagnosis and Screening […] Diagnosis […] Clinical Diagnosis Can Be Clear on Colonoscopy […] Flexible Sigmoidoscopy Alone is Often Sufficient […] Primary Diagnosis is Made by an APC Gene Mutation […] Patients with a Family History of FAP Should Undergo Genetic Counseling/Screening by Age 10-12 […] Colonoscopy […] High-Quality Colonoscopy Starting at Age 10-15 Years […] Repeat Every Year […] Flexible Sigmoidoscopy May Be Considered Based on patient and Family preference or Clinical Judgment […] Upper Endoscopy […] Start Screening at Age 20-25 […] Start Immediately if Any Colon Polyps are Seen […] Repeat Endoscopy Based on Spigelman Stage […] Stage 0: Every 3-5 Years […] Stage I: Every 2-3 Years […] Stage II: Every 1-2 Years […] Stage III: Every 6-12 Months […] Stage IV: Expert Surveillance Every 3-6 Months […] Other Screening Considerations […] May Also Consider Screening with Thyroid Ultrasound Every 2-5 Years Starting in Late Teenage Years […] No Specific Guidelines for Desmoid Tumor or Brain Tumor Surveillance

• #1 Familial Adenomatous Polyposis | Springer Nature Experiments

  https://experiments.springernature.com/articles/10.1385/1-59259-432-8:245

  Familial adenomatous polyposis (FAP) is an autosomal, dominantly inherited disorder that predisposes to the development of hundreds to thousands of adenomatous polyps throughout the colon and rectum (MIM 175100). Left untreated, it is almost 100% certain that at least one of these polyps will become malignant, usually by the time the patient is 40 yr of age (1). […] In general, the clinical features of the disorder allow a diagnosis of FAP to be made relatively easily. However, the attenuated form of the disease can show similarities to hereditary non-polyposis colon cancer (HNPCC), and mutation analysis of the causative genes may be required to aid in the differential diagnosis.

• #1 APC transcription studies and molecular diagnosis of familial adenomatous polyposis | European Journal of Human Genetics

  https://www.nature.com/articles/s41431-019-0486-2

  The identification of causative variants in families with inherited polyposis syndromes is important for the prevention of CRC. Good clinical practice includes referral of patients with multiple colorectal adenomas for genetic counselling and consideration of diagnostic testing of APC and other polyposis genes. Well over 90% of patients with a phenotype of classical FAP have a germline APC variant which is predicted to alter protein function identified through sequencing of coding exons and deletion/duplication analysis via multiplex ligation-dependent probe analysis. […] This paper describes a 4-generation family with a clinical diagnosis of FAP. Despite genetic diagnostic testing performed in several expert centres, the genetic basis for the disease had not been determined. […] A study at Cardiff University, Genetic Mechanisms in Colorectal Polyposis is currently investigating patients with at least ten colorectal polyps who had no protein-altering APC variant identified (NVI) through genetic testing in a clinical diagnostic setting.

• #1 Familial adenomatous polyposis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/familial-adenomatous-polyposis/diagnosis-treatment/drc-20372446

  Surgery doesn’t cure FAP. Polyps can continue to form in the remaining or reconstructed parts of your colon, stomach and small intestine. Depending on the number and size of the polyps, having them removed endoscopically may not be enough to reduce your risk of cancer. You may need additional surgery. […] You will need regular screening and treatment if needed for the complications of familial adenomatous polyposis that can develop after colorectal surgery. Depending on your history and the type of surgery you had, screening may include: […] Depending on your screening results, your doctor may additional treatments for the following issues: […] Researchers continue to evaluate additional treatments for FAP. In particular, the use of pain relievers such as aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs), as well as a chemotherapy drug, are being investigated.

• #1 Managing familial adenomatous polyposis (FAP): new approaches | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/new-approaches-to-managing-familial-adenomatous-polyposis–fap.h00-159537378.html

  With the colon removed, the risk of colorectal cancer becomes almost none. This effectively prevents FAP patients from dying of colorectal cancer, Vilar-Sanchez says. […] The picture is changing, thanks to clinical trials, Vilar-Sanchez says. He is currently leading several clinical trials that aim to manage the risk of cancer in patients with FAP without compromising quality of life. […] One clinical trial is studying obeticholic acid (Ocaliva), an FDA-approved oral drug that acts as a synthetic bile acid to stops pathways of intestinal stem cells. […] Along with his team, hes investigating if obeticholic acid can serve as a chemoprevention therapy to slow or halt the development of polyps in the duodenum of patients with FAP who have received a colectomy.

• #1 Gastrointestinal Polyposis Syndromes > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/gastrointestinal-polyposis-syndromes

  The surgical removal of the entire colon (total colectomy), part of the colon (subtotal colectomy), or the colon and the rectum (proctocolectomy) may be done as a preventive measure to prevent colorectal cancer from developing or, if cancer has developed, to eradicate it from the body. […] Nonsteroidal anti-inflammatory drugs (NSAIDs), such as sulindac, may reduce the number and size of colorectal polyps in people with FAP. […] The outlook for people with a polyposis syndrome varies based on the type of syndrome, its severity, and the timing of diagnosis and treatment.

• #1 Familial adenomatous polyposis – Wikipedia

  https://en.wikipedia.org/wiki/Familial_adenomatous_polyposis

  Making the diagnosis of FAP before the development of colon cancer is important not just for the individual, but also for the sake of other family members who may be affected. Two diagnostic methods exist: Colonoscopy is the usual diagnostic test of choice as it favours the common right-side location of polyps better than sigmoidoscopy if the mutation is attenuated FAP, and can confirm or allow (a) the actual clinical presentation and any change to the condition, of the 'at risk’ individual, (b) quantification of polyps throughout the colon, (c) a histologic diagnosis (cell/cancer type detection) and (d) where polyps exist, it can suggest whether outpatient excision (removal) is viable or surgery is recommended. […] Genetic testing provides the ultimate diagnosis in 95% of cases; genetic counseling is usually needed in families where FAP has been diagnosed. Testing may also aid in the diagnosis of borderline cases in families that are otherwise known to p34.3 and p32.1 (1p34.3p32.1). Testing can only show if an individual is susceptible to FAP or rule it out (i.e., whether or not they inherited the defective APC gene). It cannot determine the actual condition of a patient; this can only be found by direct physical examination.

• #2 Familial Adenomatous Polyposis: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/175377-overview

  Familial adenomatous polyposis (FAP) is the most common adenomatous polyposis syndrome. It is an autosomal dominant inherited disorder characterized by the early onset of hundreds to thousands of adenomatous polyps throughout the colon. If left untreated, all patients with this syndrome will develop colon cancer by age 35-40 years. In addition, an increased risk exists for the development of other malignancies. […] If a patient with a suspected polyposis syndrome undergoes genetic testing and does not have an APC gene mutation, MYH gene testing should be performed to assess for MAP, as 10%-20% of patients who do not have an APC gene mutation have biallelic MYH gene mutations. […] The mean age at which colorectal cancer develops in patients with classic FAP is 39 years. Patients with adenomatous polyposis itself often are asymptomatic. […] The principal cause of mortality is colorectal cancer, which develops in all patients unless they are treated.

• #2 Familial Adenomatous Polyposis – The Jackson Laboratory

  https://www.jax.org/education-and-learning/clinical-and-continuing-education/clinical-topics/cancer-resources/fap-and-afap

  A pathogenic variant (mutation) that is identified by molecular genetic testing of the APC gene. […] A diagnosis of FAP is now established by molecular genetic testing. In the absence of genetic testing, a clinical diagnosis can be made if an individual has early onset of 100 or more adenomatous colon polyps. […] There are no clinical diagnostic criteria for AFAP. Generally, a clinical diagnosis is suspected when an individual has between 10 and 99 adenomatous colon polyps, or more than 100 polyps diagnosed at an older age than that expected for FAP (age 35-40 or older). […] Clinical testing includes gene sequencing and deletion/duplication analysis of, most often using a multigene panel. Gene sequencing will identify up to 90% of individuals with FAP/AFAP, and deletion/duplication testing an additional 8-12%.

• #2 Familial adenomatous polyposis | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-22

  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. […] 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. […] The diagnosis of classic FAP is based on a suggestive family history and clinical findings. Whenever possible, the clinical diagnosis should be confirmed by genetic testing. […] The clinical diagnosis is dependent on the physician’s suspicion and awareness. […] The diagnosis of AFAP is more complex than that of classic FAP because of the wide phenotypic variation of disease. Total colonoscopy, rather than sigmoidoscopy, has been advocated for screening individuals at risk as the polyps tend to have a right-sided distribution.

• #2 Familial Adenomatous Polyposis: Alarming Symptoms, Causes, Types, Diagnosis and Treatment – OncoDaily

  https://oncodaily.com/oncolibrary/cancer-types/familial-adenomatous-polyposis

  Colonoscopy is one of the most effective diagnostic tools for FAP, providing a direct view of the colon and rectum. In patients with classic FAP, colonoscopy often reveals hundreds to thousands of polyps by adolescence. This procedure is highly sensitive, allowing for the detection of even small polyps, and is critical for both diagnosis and ongoing surveillance. […] The sensitivity of genetic testing for APC mutations exceeds 90% in individuals with classic FAP. Similarly, colonoscopy has a high accuracy rate, detecting polyps as small as 1 mm in size. According to a 2023 study, early detection through colonoscopy can lead to a 99% prevention rate of colorectal cancer when combined with surgical treatment. […] Several laboratory tests and imaging methods complement genetic testing and endoscopy to diagnose and monitor FAP: Fecal occult blood test (FOBT): This test detects hidden blood in the stool, which may be a sign of polyps or colorectal cancer. While FOBT is not diagnostic for FAP, it is often used to detect complications arising from polyps.

• #2 Familial Adenomatous Polyposis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538233/

  Genetic testing is recommended if colonoscopy reveals over 20 adenomatous polyps or if FAP-associated cancers are detected in a patient. […] According to National Cancer Comprehensive Network guidelines, patients who test positive for an APC gene mutation should undergo annual sigmoidoscopy or colonoscopy from age 10 to 15. […] Screening for extracolonic manifestations of FAP is essential and includes the following measures: Upper endoscopy to examine the stomach and duodenum at 20 to 25 years. […] The management of FAP varies depending on the presence and severity of both colonic and extracolonic manifestations of the disease. […] Definitive surgical management of FAP involves removing the colon and rectal tissue at risk for polyposis. […] The choice of surgical procedure depends on several factors, including the extent of the polyp burden, family history of the disease, and patient preferences. […] Genetic testing for APC gene mutations is essential to confirm the diagnosis in suspected cases and identify at-risk family members.

• #2 Familial Adenomatous Polyposis – Gastrointestinal Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/gastrointestinal-disorders/tumors-of-the-gastrointestinal-tract/familial-adenomatous-polyposis

  Familial adenomatous polyposis is a hereditary disorder causing numerous colonic polyps and frequently results in colon carcinoma, often by age 40. […] Diagnosis is by endoscopy and genetic testing. […] Diagnosis of familial adenomatous polyposis is made by finding 100 polyps on colonoscopy. […] Diagnosed patients should have genetic testing to identify the specific mutation, which should then be sought in first-degree relatives. […] If genetic testing is unavailable, relatives should be screened with annual sigmoidoscopy beginning at age 12, reducing frequency with each decade. […] After colectomy, patients should have upper endoscopic surveillance at periodic intervals. […] The American College of Gastroenterology’s 2015 guidelines for genetic testing and management of hereditary gastrointestinal cancer syndromes recommend doing upper endoscopy including duodenoscopy starting at age 25 to 30 years and repeating surveillance every 6 months to 4 years depending on the stage of duodenal polyposis.

• #2 Familial Adenomatous Polyposis Workup: Approach Considerations, Imaging Studies, Laboratory Studies

  https://emedicine.medscape.com/article/175377-workup

  The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. […] When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. […] Genetic testing for a germline mutation in the APC gene should be considered in individuals with 10-20 adenomas in their lifetime, furthermore in patients with a strong family history of polyposis; larger numbers of adenomas is associated with a greater likelihood of FAP. […] Representative polyps should be removed by endoscopic polypectomy to confirm the diagnosis by histologic examination.

• #2 Familial adenomatous polyposis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/familial-adenomatous-polyposis/diagnosis-treatment/drc-20372446

  You’re at risk of familial adenomatous polyposis if you have a parent, child, brother or sister with the condition. If you’re at risk, it’s important to be screened frequently, starting in childhood. Annual exams can detect the growth of polyps before they become cancerous. […] A simple blood test can determine if you carry the abnormal gene that causes FAP. Genetic testing may also detect whether you’re at risk of complications of FAP. Your doctor may suggest genetic testing if: […] Ruling out FAP spares at-risk children years of screening and emotional distress. For children who do carry the gene, appropriate screening and treatment greatly reduce the risk of cancer. […] Your doctor may recommend thyroid exams and other tests to detect other medical problems that can occur if you have FAP.

• #2 Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study | European Journal of Human Genetics

  https://www.nature.com/articles/s41431-024-01585-z

  Furthermore, a genetic diagnosis is important for evaluating the risk among relatives. […] In recent years, genetic diagnostics has increasingly been integrated into the care of these patients and has offered them the possibility of a precise diagnosis and reevaluation of the optimal disease surveillance. […] The purpose of the study was to systematically offer genetic analyses to registered families with CP and to evaluate the use of different sequencing methods and estimate the variant detection rate. […] Genetic testing was offered to a proband or affected family member. […] If genetic testing was negative, selected patients were offered further genetic testing, including screening for mosaicism of APC variants in blood and/or tissue from an adenoma. […] In total, we detected a PV in 16 out of 27 families (60%).

• #2 Age and manifestation related symptoms in familial adenomatous polyposis | BMC Cancer | Full Text

  https://bmccancer.biomedcentral.com/articles/10.1186/1471-2407-5-24

  To identify early symptoms of familial adenomatous polyposis with a view to improve early diagnosis and treatment. Diagnosis on the basis of genetic testing is usually limited to where there is a known family history, so FAP is more usually diagnosed on clinical grounds. Except for those identified via FAP registers, the majority of patients are symptomatic at the time of diagnosis. […] FAP was diagnosed clinically on the basis of symptoms in 84% (120/143) of these patients. Most presented with intestinal symptoms such as colonic bleeding (68%) and diarrhea (42%). […] The commonest presenting features of FAP are alteration of bowel habit and rectal bleeding, but both are found in many other conditions. Patients with these findings need immediate endoscopy to allow prompt diagnosis and prophylactic surgery.

• #2 Age and manifestation related symptoms in familial adenomatous polyposis | BMC Cancer | Full Text

  https://bmccancer.biomedcentral.com/articles/10.1186/1471-2407-5-24

  The diagnosis of FAP was established clinically if more than 100 polyps were detected endoscopically in the colorectum. […] The diagnosis of FAP was made on the basis of clinical symptoms in 66% of patients (94/143). Diagnosis was incidental in 6% (9/143) and the reasons are unknown in 8% (11/143). […] Most patients (53%, 76/143) were between 20 and 40 years of age at primary diagnosis, of whom 75% (58/76) had symptoms. […] In summary, we found no symptoms specific for FAP in our patient population. Yet it was possible to correlate several symptoms with disease in our age groups. In a few cases, extracolonic manifestations were the first noticeable changes. Due to their young age and mostly moderate symptoms, patients younger than 40 years of age with FAP are not easily identifiable in routine gastrointestinal practice. In all patients who present with the gastrointestinal symptoms we describe, the first diagnostic step should be rectoscopy, followed by complete colonoscopy to exclude FAP. Patients over 40 years old in whom inherited colorectal cancer is suspected, even without rectal manifestations, should generally undergo colonoscopy earlier than recommended for the general population. In patients of all age groups genetic testing should be recommended in order to allow presymptomatic testing in their sibs and offspring. Family members with positive tests and all persons at risk from families where the mutation could not be identified must be examined and monitored by clinical registers.

• #2 Diagnosis, surveillance, and treatment strategies for familial adenomatous polyposis: rationale and update

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5019104/

  Familial adenomatous polyposis is characterized by the development of multiple (100) colorectal adenomas throughout the colorectum. This disorder can be caused by a germline mutation in the adenomatous polyposis coli gene and can be diagnosed either clinically or genetically. […] The diagnosis of FAP relies primarily on clinical findings on the number and history of colorectal adenomatous polyps. Individuals with 100 or more polyps, or with fewer than 100 polyps but with a family history of FAP, are clinically diagnosed with FAP. […] Genetic testing should be performed for certain indications including confirmation of the diagnosis of FAP and presymptomatic diagnosis of individuals 10 years of age or older who are at risk for FAP. […] The likelihood of detecting an APC mutation is highly related to the severity of polyposis and the family history. Patients with an FAP phenotype are significantly more likely to have an APC mutation than patients with an AFAP phenotype.

• #2 Updated perspectives on the diagnosis and management of FAP | TACG

  https://www.dovepress.com/updated-perspectives-on-the-diagnosis-and-management-of-familial-adeno-peer-reviewed-fulltext-article-TACG

  Similarly, the diagnosis of aFAP is set in the presence of heterozygosity for one pathogenic variant in the APC gene, as detected with genetic testing. […] Even though conventional endoscopy is the method commonly used in clinical practice for the diagnosis of FAP and the follow-up of the patients, there are also other methods with promising results. […] The role of active surveillance is important and can even constitute a viable alternative to immediate treatment in some cases. […] According to several guidelines, surveillance in FAP by sigmoidoscopy/colonoscopy should be performed every one to three years starting at the age of 10 to 14 years. […] The basic principles of genetic testing and surveillance of asymptomatic family members with a known pathogenic APC variant in their family are illustrated in the diagram.

• #2 Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study | European Journal of Human Genetics

  https://www.nature.com/articles/s41431-024-01585-z

  In the Danish Polyposis Register, patients with over 100 cumulative colorectal adenomas of unknown genetic etiology, named in this study colorectal polyposis (CP), is registered and treated as familial adenomatous polyposis (FAP). […] We performed genetic analyses, including whole genome sequencing (WGS), of all Danish patients registered with CP and estimated the detection rate of pathogenic variants (PV). […] A polyposis-associated gene panel was performed and, if negative, patients were offered WGS and screening for mosaicism in blood and/or adenomas. […] PVs were detected in 11 families, and WGS revealed three additional structural variants in APC. […] As the variant detection rate of eligible families was 60%, 93% of families in the register now have a known genetic etiology. […] It is important to differentiate patients with FAP from patients with other syndromes, as surveillance is tailored to specific genetic syndromes.

• #2 Familial Adenomatous Polyposis (FAP): Symptoms, Diagnosis, Risks

  https://my.clevelandclinic.org/health/diseases/16993-familial-adenomatous-polyposis-fap

  Familial adenomatous polyposis (FAP) is a hereditary syndrome that raises your risk of developing colorectal cancer to nearly 100%. […] To manage this risk, healthcare providers usually recommend complete removal of the colon (total colectomy) and sometimes the rectum, too (proctocolectomy). […] Diagnosis of FAP is based on having at least 100 polyps, or 20 for AFAP, and the APC mutation. […] If you want to know if you’ve inherited the APC gene mutation, you can find out through genetic testing. […] Treatment for FAP involves lifelong surveillance and, eventually, surgery. […] Most people with classic FAP will have a total colectomy sometime in their late teens to early thirties. […] Your healthcare team will advise you on how often to get screening tests for different types of tumors based on your personal risk factors.

• #2 Familial adenomatous polyposis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/familial-adenomatous-polyposis/diagnosis-treatment/drc-20372446

  Surgery doesn’t cure FAP. Polyps can continue to form in the remaining or reconstructed parts of your colon, stomach and small intestine. Depending on the number and size of the polyps, having them removed endoscopically may not be enough to reduce your risk of cancer. You may need additional surgery. […] You will need regular screening and treatment if needed for the complications of familial adenomatous polyposis that can develop after colorectal surgery. Depending on your history and the type of surgery you had, screening may include: […] Depending on your screening results, your doctor may additional treatments for the following issues: […] Researchers continue to evaluate additional treatments for FAP. In particular, the use of pain relievers such as aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs), as well as a chemotherapy drug, are being investigated.

• #2 Familial Adenomatous Polyposis (FAP): Symptoms, Diagnosis, Risks

  https://my.clevelandclinic.org/health/diseases/16993-familial-adenomatous-polyposis-fap

  For classic FAP, guidelines recommend yearly colonoscopies starting at age 10 and continuing until your colectomy. […] After your colectomy, you’ll need to continue with regular sigmoidoscopies, examinations of the end of your GI (gastrointestinal) tract. […] Without timely treatment, the median life expectancy is 42 years. […] But with appropriate care, you can live a normal life.

• #2 Managing familial adenomatous polyposis (FAP): new approaches | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/new-approaches-to-managing-familial-adenomatous-polyposis–fap.h00-159537378.html

  With the colon removed, the risk of colorectal cancer becomes almost none. This effectively prevents FAP patients from dying of colorectal cancer, Vilar-Sanchez says. […] The picture is changing, thanks to clinical trials, Vilar-Sanchez says. He is currently leading several clinical trials that aim to manage the risk of cancer in patients with FAP without compromising quality of life. […] One clinical trial is studying obeticholic acid (Ocaliva), an FDA-approved oral drug that acts as a synthetic bile acid to stops pathways of intestinal stem cells. […] Along with his team, hes investigating if obeticholic acid can serve as a chemoprevention therapy to slow or halt the development of polyps in the duodenum of patients with FAP who have received a colectomy.

• #2 Genetic Testing for Polyposis Syndromes AHS-M2024 | Providers | Blue Cross NC

  https://www.bluecrossnc.com/providers/policies-guidelines-codes/commercial/laboratory/updates/genetic-testing-for-polyposis-syndromes

  The NCCN recommends APC or MUTYH gene testing for individuals with a personal history of >20 adenomas and for individuals with a known deleterious familial mutation, and individuals with multifocal or bilateral congenital hypertrophy of retinal pigment epithelium (CHRPE). […] The NCCN also notes that a classical diagnosis of FAP is suspected when there are “at least 100 cumulative adenomas in the large bowel” present at a young age; however, genetic testing with multi-gene panel is recommended to differentiate between FAP, AFAP, MAP polyposis due to a mutation in a rare gene for which testing is available, and colonic polyposis of unknown etiology (NCCN, 2023).

• #3 Familial adenomatous polyposis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/familial-adenomatous-polyposis/diagnosis-treatment/drc-20372446

  You’re at risk of familial adenomatous polyposis if you have a parent, child, brother or sister with the condition. If you’re at risk, it’s important to be screened frequently, starting in childhood. Annual exams can detect the growth of polyps before they become cancerous. […] A simple blood test can determine if you carry the abnormal gene that causes FAP. Genetic testing may also detect whether you’re at risk of complications of FAP. Your doctor may suggest genetic testing if: […] Ruling out FAP spares at-risk children years of screening and emotional distress. For children who do carry the gene, appropriate screening and treatment greatly reduce the risk of cancer. […] Your doctor may recommend thyroid exams and other tests to detect other medical problems that can occur if you have FAP.

• #3 Familial adenomatous polyposis | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/familial-adenomatous-polyposis-1?embed_domain=hackmd.io%2525252525252f%25252525252540yipuafecsl2jsu8smr5njq%2525252525252fbnjhjgjghjghjghradiopaedia-icon-144.png&lang=us

  Familial adenomatous polyposis syndrome (FAPS) is characterized by the presence of hundreds of adenomatous polyps in the colon. It is the most common of the polyposis syndromes. […] Familial adenomatous polyposis syndrome affects 1 in 10,000 people. The average age of presentation is 16 years. […] Typical symptoms and signs include rectal bleeding, diarrhea, abdominal pain, anemia, and/or mucosal discharge. Polyps usually develop around puberty. […] Familial adenomatous polyposis syndrome is characterized by the presence of hundreds or thousands of colonic adenomatous polyps, usually tubular or tubulovillous. The rectum is occasionally spared. Less commonly they affect the small bowel and stomach. […] Familial adenomatous polyposis syndrome accounts for 0.5% of colorectal cancer cases with ~7% of familial adenomatous polyposis carriers developing colorectal cancer by age 21, and almost every carrier developing colorectal cancer by 35-40 years. […] Total colectomy or proctocolectomy with ileoanal anastomosis is generally considered the surgical treatment of choice.

• #3 Familial Adenomatous Polyposis (FAP): Symptoms, Diagnosis, Risks

  https://my.clevelandclinic.org/health/diseases/16993-familial-adenomatous-polyposis-fap

  Familial adenomatous polyposis (FAP) is a hereditary syndrome that raises your risk of developing colorectal cancer to nearly 100%. […] To manage this risk, healthcare providers usually recommend complete removal of the colon (total colectomy) and sometimes the rectum, too (proctocolectomy). […] Diagnosis of FAP is based on having at least 100 polyps, or 20 for AFAP, and the APC mutation. […] If you want to know if you’ve inherited the APC gene mutation, you can find out through genetic testing. […] Treatment for FAP involves lifelong surveillance and, eventually, surgery. […] Most people with classic FAP will have a total colectomy sometime in their late teens to early thirties. […] Your healthcare team will advise you on how often to get screening tests for different types of tumors based on your personal risk factors.

• #3 Genetic Testing for Polyposis Syndromes

  https://www.southcarolinablues.com/web/public/brands/medicalpolicyhb/external-policies/genetic-testing-for-polyposis-syndromes/

  For individuals who have no known familial pathogenic variant(s), multi-gene panel testing for polyposis syndrome risk factors MEDICALLY NECESSARY in any of the following situations: For individuals with a personal history of 10 or more cumulative adenomas. […] The diagnosis should be considered in patients 40-50 years old with 10-100 adenomas cumulatively. […] Diagnosis of MUTYH-associated polyposis requires identification of biallelic pathogenic germline variants of MUTYH (Grover Stoffel, 2022). […] The NCCN recommends APC or MUTYH gene testing for individuals with a personal history of 20 adenomas, individuals with a known deleterious familial mutation, and individuals with multifocal or bilateral congenital hypertrophy of retinal pigment epithelium (CHRPE). […] If a patient has a personal or family history of a known pathogenic variant of a colorectal polyposis or cancer gene, further evaluation is warranted.

Zobacz więcej