Materiały źródłowe

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

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

  At first, your doctor will remove any small polyps found during your colonoscopy exam. Eventually, though, the polyps will become too numerous to remove individually, usually by your late teens or early 20s. Then you will need surgery to prevent colon cancer. You will also need surgery if a polyp is cancerous. You may not need surgery for AFAP. […] Your surgeon may decide to perform your surgery laparoscopically, through several small incisions that require just a stitch or two to close. This minimally invasive surgery usually shortens your hospital stay and allows you to recover more quickly. […] Depending on your situation, you may have one of the following types of surgery to remove part or all of the colon: Subtotal colectomy with ileorectal anastomosis, in which the rectum is left in place; Total proctocolectomy with a continent ileostomy, in which the colon and rectum are removed and an opening (ileostomy) is created, usually on the right side of your abdomen; Total proctocolectomy with ileoanal anastomosis (also called J-pouch surgery), in which the colon and rectum are removed and a part of the small intestine is attached to the rectum.

• #2 Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4248206/

  Familial adenomatous polyposis (FAP) is an autosomal dominant inherited syndrome characterized by multiple adenomatous polyps (predisposing to colorectal cancer development) and numerous extracolonic manifestations. […] As a precancerous hereditary condition, the rationale of performing a prophylactic surgery is a mainstay of FAP management. […] After diagnosis, surgery represents the mainstay of treatment for FAP patients. Surgical options include total colectomy with ileorectal anastomosis (IRA), total proctocolectomy with ileostomy (TPI), and restorative proctocolectomy (RPC) with or without mucosectomy and ileal-pouch anal anastomosis. […] The present manuscript aims to raise and discuss several controversial issues concerning the surgical treatment of patients diagnosed with FAP.

• #3 Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4248206/

  Once FAP is diagnosed, there is a recommendation for immediate surgery for severe cases (1000 colonic and/or 20 rectal polyps) as soon as practicable. […] The decision-making process to surgical alternatives must be tailored to the disease severity as well as to patients age, clinical conditions and personal preferences. […] Proctocolectomy with ileostomy is the less common operation performed and must be reserved for patients with low rectal cancer, sphincter dysfunction, when a mesenteric desmoid prevents pouch construction or when it is impossible to pull the pouch down to the pelvis. […] IRA is generally recommended for patients with few rectal polyps, with AFAP, a family history of mild phenotype and for those young women with desire to be pregnant. […] Patients with other features should undergo RPC.

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

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

  At first, your doctor will remove any small polyps found during your colonoscopy exam. Eventually, though, the polyps will become too numerous to remove individually, usually by your late teens or early 20s. Then you will need surgery to prevent colon cancer. You will also need surgery if a polyp is cancerous. You may not need surgery for AFAP. […] Your surgeon may decide to perform your surgery laparoscopically, through several small incisions that require just a stitch or two to close. This minimally invasive surgery usually shortens your hospital stay and allows you to recover more quickly. […] Depending on your situation, you may have one of the following types of surgery to remove part or all of the colon: Subtotal colectomy with ileorectal anastomosis, in which the rectum is left in place; Total proctocolectomy with a continent ileostomy, in which the colon and rectum are removed and an opening (ileostomy) is created, usually on the right side of your abdomen; Total proctocolectomy with ileoanal anastomosis (also called J-pouch surgery), in which the colon and rectum are removed and a part of the small intestine is attached to the rectum.

• #5 Familial Adenomatous Polyposis Treatment & Management: Medical Care, Surgical Care, Consultations

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

  Medical care is mainly based on endoscopic surveillance to detect the onset of polyposis. Consequently, surgery would prevent the development of colon cancer. However, in view of the increased risk for the development of other cancers, continued medical follow-up is required with a number of surveillance tests, as colectomy would only address the potential risk of colon cancer. […] A number of drugs (eg, celecoxib, sulindac) have been used successfully to reduce the number and the size of polyps in patients with FAP. However, they are insufficient as a primary modality of therapy. […] Because of the diffuse nature of the polyposis and the inevitability of colorectal cancer, surgical therapy is ultimately required. Surgical therapy should be performed before the onset of cancer. […] Colectomy with mucosal proctectomy and ileoanal pouch pull-through (proctocolectomy with ileal pouch-anal anastomosis/IPAA) is the procedure of choice at many centers. This procedure allows retention of the rectal function. Other options include subtotal colectomy with ileoanal anastomosis and total proctocolectomy with ileostomy.

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

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

  At first, your doctor will remove any small polyps found during your colonoscopy exam. Eventually, though, the polyps will become too numerous to remove individually, usually by your late teens or early 20s. Then you will need surgery to prevent colon cancer. You will also need surgery if a polyp is cancerous. You may not need surgery for AFAP. […] Your surgeon may decide to perform your surgery laparoscopically, through several small incisions that require just a stitch or two to close. This minimally invasive surgery usually shortens your hospital stay and allows you to recover more quickly. […] Depending on your situation, you may have one of the following types of surgery to remove part or all of the colon: Subtotal colectomy with ileorectal anastomosis, in which the rectum is left in place; Total proctocolectomy with a continent ileostomy, in which the colon and rectum are removed and an opening (ileostomy) is created, usually on the right side of your abdomen; Total proctocolectomy with ileoanal anastomosis (also called J-pouch surgery), in which the colon and rectum are removed and a part of the small intestine is attached to the rectum.

• #7 Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4248206/

  Once FAP is diagnosed, there is a recommendation for immediate surgery for severe cases (1000 colonic and/or 20 rectal polyps) as soon as practicable. […] The decision-making process to surgical alternatives must be tailored to the disease severity as well as to patients age, clinical conditions and personal preferences. […] Proctocolectomy with ileostomy is the less common operation performed and must be reserved for patients with low rectal cancer, sphincter dysfunction, when a mesenteric desmoid prevents pouch construction or when it is impossible to pull the pouch down to the pelvis. […] IRA is generally recommended for patients with few rectal polyps, with AFAP, a family history of mild phenotype and for those young women with desire to be pregnant. […] Patients with other features should undergo RPC.

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

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

  At first, your doctor will remove any small polyps found during your colonoscopy exam. Eventually, though, the polyps will become too numerous to remove individually, usually by your late teens or early 20s. Then you will need surgery to prevent colon cancer. You will also need surgery if a polyp is cancerous. You may not need surgery for AFAP. […] Your surgeon may decide to perform your surgery laparoscopically, through several small incisions that require just a stitch or two to close. This minimally invasive surgery usually shortens your hospital stay and allows you to recover more quickly. […] Depending on your situation, you may have one of the following types of surgery to remove part or all of the colon: Subtotal colectomy with ileorectal anastomosis, in which the rectum is left in place; Total proctocolectomy with a continent ileostomy, in which the colon and rectum are removed and an opening (ileostomy) is created, usually on the right side of your abdomen; Total proctocolectomy with ileoanal anastomosis (also called J-pouch surgery), in which the colon and rectum are removed and a part of the small intestine is attached to the rectum.

• #9 Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4248206/

  Once FAP is diagnosed, there is a recommendation for immediate surgery for severe cases (1000 colonic and/or 20 rectal polyps) as soon as practicable. […] The decision-making process to surgical alternatives must be tailored to the disease severity as well as to patients age, clinical conditions and personal preferences. […] Proctocolectomy with ileostomy is the less common operation performed and must be reserved for patients with low rectal cancer, sphincter dysfunction, when a mesenteric desmoid prevents pouch construction or when it is impossible to pull the pouch down to the pelvis. […] IRA is generally recommended for patients with few rectal polyps, with AFAP, a family history of mild phenotype and for those young women with desire to be pregnant. […] Patients with other features should undergo RPC.

• #10 Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4248206/

  Long-term functional results have been generally better after IRA. […] Although it was initially thought that RPC would abolish the risk of neoplasia, adenomas may develop within the ileal pouch many years after the surgical treatment. […] FAP patients should be advised to have the operation performed in medical centers that are familiar with FAP and by surgeons with proper training to perform this procedure. […] Current guidelines recommend that patients at risk for FAP should initiate endoscopic examination at 10-12 years of age, with continuing regular endoscopic surveillance until colectomy is advisable due to polyp burden, size or degree of dysplasia. […] Ideally, FAP treatment would be pharmacological, as the NSAIDS, sulindac, celecoxib (selective cyclo-oxygenase-2 inhibitor) and aspirin may cause regression of established adenomatous polyps in individuals with FAP and may also reduce the number and size of colorectal adenomas.

• #11 Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4248206/

  Long-term functional results have been generally better after IRA. […] Although it was initially thought that RPC would abolish the risk of neoplasia, adenomas may develop within the ileal pouch many years after the surgical treatment. […] FAP patients should be advised to have the operation performed in medical centers that are familiar with FAP and by surgeons with proper training to perform this procedure. […] Current guidelines recommend that patients at risk for FAP should initiate endoscopic examination at 10-12 years of age, with continuing regular endoscopic surveillance until colectomy is advisable due to polyp burden, size or degree of dysplasia. […] Ideally, FAP treatment would be pharmacological, as the NSAIDS, sulindac, celecoxib (selective cyclo-oxygenase-2 inhibitor) and aspirin may cause regression of established adenomatous polyps in individuals with FAP and may also reduce the number and size of colorectal adenomas.

• #12 Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4248206/

  Long-term functional results have been generally better after IRA. […] Although it was initially thought that RPC would abolish the risk of neoplasia, adenomas may develop within the ileal pouch many years after the surgical treatment. […] FAP patients should be advised to have the operation performed in medical centers that are familiar with FAP and by surgeons with proper training to perform this procedure. […] Current guidelines recommend that patients at risk for FAP should initiate endoscopic examination at 10-12 years of age, with continuing regular endoscopic surveillance until colectomy is advisable due to polyp burden, size or degree of dysplasia. […] Ideally, FAP treatment would be pharmacological, as the NSAIDS, sulindac, celecoxib (selective cyclo-oxygenase-2 inhibitor) and aspirin may cause regression of established adenomatous polyps in individuals with FAP and may also reduce the number and size of colorectal adenomas.

• #13 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. […] Your doctor may recommend surgery to remove the upper part of the small intestine (duodenum and ampulla) because these types of polyps can progress to cancer. […] You may be given a combination of medications, including nonsteroidal anti-inflammatory drugs, anti-estrogen and chemotherapy. In some cases, you may need surgery. […] 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.

• #14 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. […] Your doctor may recommend surgery to remove the upper part of the small intestine (duodenum and ampulla) because these types of polyps can progress to cancer. […] You may be given a combination of medications, including nonsteroidal anti-inflammatory drugs, anti-estrogen and chemotherapy. In some cases, you may need surgery. […] 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.

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

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

  Most people with classic FAP will have a total colectomy sometime in their late teens to early thirties. Your healthcare provider will determine when to schedule your surgery based on your particular risk factors. They’ll also discuss with you the different types of colectomy operations you might have. […] After your colectomy, you’ll need to continue with regular sigmoidoscopies, examinations of the end of your GI (gastrointestinal) tract. If you have some rectum left over, it should be checked every six to 12 months. If your rectum was removed but was replaced by an ileal pouch, it should be checked every one to four years.

• #16 Familial Adenomatous Polyposis Treatment & Management: Medical Care, Surgical Care, Consultations

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

  Medical care is mainly based on endoscopic surveillance to detect the onset of polyposis. Consequently, surgery would prevent the development of colon cancer. However, in view of the increased risk for the development of other cancers, continued medical follow-up is required with a number of surveillance tests, as colectomy would only address the potential risk of colon cancer. […] A number of drugs (eg, celecoxib, sulindac) have been used successfully to reduce the number and the size of polyps in patients with FAP. However, they are insufficient as a primary modality of therapy. […] Because of the diffuse nature of the polyposis and the inevitability of colorectal cancer, surgical therapy is ultimately required. Surgical therapy should be performed before the onset of cancer. […] Colectomy with mucosal proctectomy and ileoanal pouch pull-through (proctocolectomy with ileal pouch-anal anastomosis/IPAA) is the procedure of choice at many centers. This procedure allows retention of the rectal function. Other options include subtotal colectomy with ileoanal anastomosis and total proctocolectomy with ileostomy.

• #17 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

  The anti-inflammatory drug sulindac can serve as a chemoprevention therapy as an alternative approach to managing polyps in the duodenum. […] 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.

• #18 Researchers at KU Medical Center work to discover treatments for people with a rare condition that leads to colon cancer

  https://www.kumc.edu/about/news/news-archive/familial-adenomatous-polyposis.html

  There are, however, some medications that are used to help slow the growth of the polyps, both in size and number, which can delay the need for surgery. […] The medications used to delay the development of cancer are prescription NSAIDS (non-steroidal anti-inflammatory drugs) such as sulindac, which is often prescribed to relieve arthritis symptoms, and aspirin. […] The researchers found that overall, treatment with NSAIDS, compared to a placebo, reduced the number of polyps by an average of 17% and reduced the polyp size by an average of 16%. […] The analysis also showed that the sulindac and aspirin outperformed the other NSAIDS in reducing the size and number of polyps, suggesting the superiority of nonselective NSAIDS for delaying cancer in these patients.

• #19 Familial Adenomatous Polyposis: Symptoms, Causes, Treatment

  https://www.healthline.com/health/colorectal-cancer/familial-adenomatous-polyposis

  FAP usually requires the removal of part or all of your large intestines. […] Partial or complete colectomy, or removal of your colon, is usually recommended for people with FAP. Its usually performed between your late teens and late 30s. […] Surgery doesnt cure FAP but can lower the risk of developing cancer. Polyps can still develop in other parts of your rectum, colon, or small intestines even after surgery. […] The nonsteroidal anti-inflammatory drug (NSAID) sulindac thats usually used to treat arthritis is sometimes prescribed to treat polyps in the rectum. […] Removal of polyps in the lower part of the small intestines is often recommended if: they cause symptoms, theyre large, a doctor thinks theres a high chance that theyll become cancerous. […] Desmoid tumors that are compressing your organs can be treated with: surgery, NSAIDs, anti-estrogen medications, chemotherapy, radiation therapy. […] Regular screening can improve the outcomes and lower your risk of developing advanced cancer. […] A doctor can advise you about how often you should get screened and whether youre eligible for clinical trials that may give you access to new treatments.

• #20 Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4248206/

  Due to these properties, celecoxib was approved by the Food and Drug Administration (FDA) in 1999 and by the European Medicines Agency (EMEA) in 2003 to reduce the number of adenomatous colorectal polyps in individuals with FAP in conjunction with usual care (e.g., endoscopic surveillance and surgery). […] In this way, the challenge of the working team (surgeon, gastroenterologist, genetic counselors and others) is to take individual decisions throughout the disease evolution based on the best available evidences and recommendations.

• #21 Familial Adenomatous Polyposis: Diagnosis and More

  https://www.verywellhealth.com/familial-adenomatous-polyposis-overview-4582457

  Another arthritis drug exists called Celecoxib, which is FDA approved. It reduces the number of polyps in the colon and rectum. […] Its important to note that these medications do not necessarily reduce the risk of cancer developing in people with FAP. […] Many people with FAP also have polyps and tumors in other parts of the body like the stomach, small intestine, and thyroid. These polyps and tumors, especially the ones with the propensity to become cancerous, should be surgically removed. […] Surgery doesnt cure the FAP and polyps may still continue to grow. Having FAP means youll have to go for regular medical screenings for the rest of your life.

• #22 Researchers at KU Medical Center work to discover treatments for people with a rare condition that leads to colon cancer

  https://www.kumc.edu/about/news/news-archive/familial-adenomatous-polyposis.html

  There are, however, some medications that are used to help slow the growth of the polyps, both in size and number, which can delay the need for surgery. […] The medications used to delay the development of cancer are prescription NSAIDS (non-steroidal anti-inflammatory drugs) such as sulindac, which is often prescribed to relieve arthritis symptoms, and aspirin. […] The researchers found that overall, treatment with NSAIDS, compared to a placebo, reduced the number of polyps by an average of 17% and reduced the polyp size by an average of 16%. […] The analysis also showed that the sulindac and aspirin outperformed the other NSAIDS in reducing the size and number of polyps, suggesting the superiority of nonselective NSAIDS for delaying cancer in these patients.

• #23 Familial Adenomatous Polyposis Treatment & Management: Medical Care, Surgical Care, Consultations

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

  Medical care is mainly based on endoscopic surveillance to detect the onset of polyposis. Consequently, surgery would prevent the development of colon cancer. However, in view of the increased risk for the development of other cancers, continued medical follow-up is required with a number of surveillance tests, as colectomy would only address the potential risk of colon cancer. […] A number of drugs (eg, celecoxib, sulindac) have been used successfully to reduce the number and the size of polyps in patients with FAP. However, they are insufficient as a primary modality of therapy. […] Because of the diffuse nature of the polyposis and the inevitability of colorectal cancer, surgical therapy is ultimately required. Surgical therapy should be performed before the onset of cancer. […] Colectomy with mucosal proctectomy and ileoanal pouch pull-through (proctocolectomy with ileal pouch-anal anastomosis/IPAA) is the procedure of choice at many centers. This procedure allows retention of the rectal function. Other options include subtotal colectomy with ileoanal anastomosis and total proctocolectomy with ileostomy.

• #24 Familial Adenomatous Polyposis: Diagnosis and More

  https://www.verywellhealth.com/familial-adenomatous-polyposis-overview-4582457

  Another arthritis drug exists called Celecoxib, which is FDA approved. It reduces the number of polyps in the colon and rectum. […] Its important to note that these medications do not necessarily reduce the risk of cancer developing in people with FAP. […] Many people with FAP also have polyps and tumors in other parts of the body like the stomach, small intestine, and thyroid. These polyps and tumors, especially the ones with the propensity to become cancerous, should be surgically removed. […] Surgery doesnt cure the FAP and polyps may still continue to grow. Having FAP means youll have to go for regular medical screenings for the rest of your life.

• #25 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

  The anti-inflammatory drug sulindac can serve as a chemoprevention therapy as an alternative approach to managing polyps in the duodenum. […] 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.

• #26 Azthena logo with the word Azthena

  https://www.news-medical.net/news/20191003/Innovative-drug-treatment-developed-for-familial-adenomatous-polyposis.aspx

  Researchers from Tel Aviv University and Tel Aviv Sourasky Medical Center (Ichilov Hospital) have developed an innovative drug treatment for familial adenomatous polyposis (FAP), a rare, inherited condition that affects adolescents and young adults and often leads to colorectal cancer. […] The novel drug, based on antibiotics, inhibits the development of intestinal polyps that, left untreated, become cancerous. In a preliminary clinical trial, the condition of seven out of eight patients who completed the full treatment improved dramatically. […] In the clinical study carried out by Prof. Kariv and Dr. Shlomi Cohen, director of the Pediatric Gastroenterology Unit at Dana-Dwek Children’s Hospital, 10 FAP patients received the novel antibiotic therapy. Eight of them completed the treatment, which lasted four months. Colonoscopies performed during and after the treatment showed that in seven patients the polyps significantly decreased in number. Moreover, the positive effects of the treatment were evident a year after it began.

• #27 Clinical efficacy of metformin in familial adenomatous polyposis and the effect of intestinal flora | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03064-6

  In this study, we investigated the ability of metformin to inhibit the development and progression of FAP adenomatous polyps by regulating the intestinal flora. […] After 1 year of metformin treatment, the mean number of polyps and the mean polyp load in the designated areas were significantly reduced in the test group compared with baseline. […] These results suggest that metformin may inhibit the incidence and development of adenomatous polyps in FAP patients. […] We conclude that 1-year metformin therapy for FAP is both safe and effective, potentially exerting its effects by modulating the intestinal flora.

• #28

  https://link.springer.com/article/10.1007/s10689-020-00189-y

  To date, no chemoprevention agent tested has fulfilled these criteria. […] New agents targeting novel pathways in FAP are needed. […] A single case report of rapamycin, an mTOR inhibitor, used as chemoprevention in FAP patients exists, but no formal clinical studies have been conducted. […] Here, we review the prior literature on chemoprevention in FAP, discuss the rationale for rapamycin in FAP, and outline a proposed clinical trial testing rapamycin as a chemoprevention agent in patients with FAP.

• #29 Investigational Oral Therapy Fast Tracked for Familial Adenomatous Polyposis

  https://www.empr.com/home/news/drugs-in-the-pipeline/investigational-oral-therapy-fast-tracked-for-familial-adenomatous-polyposis/

  Familial adenomatous polyposis is caused by abnormalities in the APC gene. […] The Food and Drug Administration (FDA) has granted Fast Track designation to REC-4881 for the treatment of familial adenomatous polyposis in patients who have previously undergone a colectomy or proctocolectomy. […] REC-4881 is an orally bioavailable, non-ATP-competitive allosteric small molecule inhibitor of MEK1 and MEK2. It is designed to reduce polyp burden and progression to adenocarcinoma in familial adenomatous polyposis patients. […] The Company expects to begin a phase 2, double-blind, randomized, placebo-controlled basket trial in the third quarter of 2022. The FDA previously granted Orphan Drug designation to REC-4881 for this indication.

• #30 Familial Adenomatous Polyposis program | StemSynergy

  https://stemsynergy.com/science-and-technology/cancer/fap-program/

  Individuals with the inherited disorder Familial Adenomatous Polyposis (FAP) develop thousands of precancerous polyps at an early age that ultimately develop into colorectal cancer (CRC), if untreated. The current standard of care for FAP patients is the complete removal of the colon (colectomy) during their teenage years. […] However, no Wnt inhibitors have been clinically approved to treat FAP patients. We identified Pyrvinium (SST-024), an off-patent FDA approved pinworm drug, as a potent Wnt inhibitor. […] SST-024 treatment attenuates the growth of intestinal polyps in these mice and does so in a manner that does not display the on-target gut toxicity that has hampered the development of Wnt inhibitors. […] SST-024 was awarded an Orphan Drug Designation by the FDA to develop SST-024 as a targeted therapeutic agent for FAP patients. As SST-024 had been previously FDA-approved as an anti-pinworm medication, its repurposing for the treatment of FAP represents a rapid, mechanistically relevant approach to address this urgent clinical need. […] When FDA approved, SST-024 would represent a major improvement in the treatment and quality of life of FAP patients.

• #31 EPA—a new therapy for familial adenomatous polyposis? | Nature Reviews Gastroenterology & Hepatology

  https://www.nature.com/articles/nrgastro.2010.108

  A free fatty acid form of the omega-3 polyunsaturated fatty acid eicosapentaenoic acid (EPA) reduces both the size and number of polyps in patients with familial adenomatous polyposis (FAP) and could help prevent the development of colorectal cancer in these patients, according to a new study lead by Mark Hull, a gastroenterologist at Leeds Institute of Molecular Medicine, Leeds, UK. […] Patients with FAP are recommended to have prophylactic removal of the colon, regular endoscopic surveillance of rectal polyps and treatment with cyclo-oxygenase 2 inhibitors (such as celecoxib) to reduce the risk of colorectal cancer.

• #32 Drug Combo Decreases Colorectal Polyps in People with FAP – NCI

  https://www.cancer.gov/news-events/cancer-currents-blog/2018/fap-erlotinib-sulindac-colorectal-polyps

  People with familial adenomatous polyposis have an inherited mutation that can lead to the formation of hundreds to thousands of colorectal polyps. […] In a new analysis of a prevention clinical trial, a two-drug combination substantially decreased the number of precancerous colorectal polyps in people with a very high hereditary risk of developing colorectal cancer. […] In the trial, people with this hereditary condition called familial adenomatous polyposis (FAP) who were randomly assigned to receive the combination of erlotinib (Tarceva) and sulindac (Aflodac) had less than a third the number of polyps after 6 months of treatment than patients who received placebos. […] The new analysis shows that the combination has a potential cancer preventive effect on colorectal polyps, as well.

• #33 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. […] Your doctor may recommend surgery to remove the upper part of the small intestine (duodenum and ampulla) because these types of polyps can progress to cancer. […] You may be given a combination of medications, including nonsteroidal anti-inflammatory drugs, anti-estrogen and chemotherapy. In some cases, you may need surgery. […] 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.

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

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

  Most people with classic FAP will have a total colectomy sometime in their late teens to early thirties. Your healthcare provider will determine when to schedule your surgery based on your particular risk factors. They’ll also discuss with you the different types of colectomy operations you might have. […] After your colectomy, you’ll need to continue with regular sigmoidoscopies, examinations of the end of your GI (gastrointestinal) tract. If you have some rectum left over, it should be checked every six to 12 months. If your rectum was removed but was replaced by an ileal pouch, it should be checked every one to four years.

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

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

  Most people with classic FAP will have a total colectomy sometime in their late teens to early thirties. Your healthcare provider will determine when to schedule your surgery based on your particular risk factors. They’ll also discuss with you the different types of colectomy operations you might have. […] After your colectomy, you’ll need to continue with regular sigmoidoscopies, examinations of the end of your GI (gastrointestinal) tract. If you have some rectum left over, it should be checked every six to 12 months. If your rectum was removed but was replaced by an ileal pouch, it should be checked every one to four years.

• #36 Familial Adenomatous Polyposis: Symptoms, Causes, Treatment

  https://www.healthline.com/health/colorectal-cancer/familial-adenomatous-polyposis

  FAP usually requires the removal of part or all of your large intestines. […] Partial or complete colectomy, or removal of your colon, is usually recommended for people with FAP. Its usually performed between your late teens and late 30s. […] Surgery doesnt cure FAP but can lower the risk of developing cancer. Polyps can still develop in other parts of your rectum, colon, or small intestines even after surgery. […] The nonsteroidal anti-inflammatory drug (NSAID) sulindac thats usually used to treat arthritis is sometimes prescribed to treat polyps in the rectum. […] Removal of polyps in the lower part of the small intestines is often recommended if: they cause symptoms, theyre large, a doctor thinks theres a high chance that theyll become cancerous. […] Desmoid tumors that are compressing your organs can be treated with: surgery, NSAIDs, anti-estrogen medications, chemotherapy, radiation therapy. […] Regular screening can improve the outcomes and lower your risk of developing advanced cancer. […] A doctor can advise you about how often you should get screened and whether youre eligible for clinical trials that may give you access to new treatments.

• #37 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

  Familial adenomatous polyposis increases colorectal cancer risk. […] Although the genetic mutation is rare and only makes up for 1% of colorectal cancer cases, patients with FAP have a 100% likelihood of developing colorectal cancer by age 30, Vilar-Sanchez says. […] If FAP is confirmed, the patient will need a colonoscopy every year or sometimes more frequently. Patients may also receive an upper endoscopy to check for polyps in the upper gastrointestinal tract as well as imaging to check for desmoid tumors in the abdomen. […] To stop a polyp from becoming cancer, it must be removed. […] By age 30, if not sooner, the colon should be removed through a surgery known as a colectomy. […] 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.

• #38 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. […] Your doctor may recommend surgery to remove the upper part of the small intestine (duodenum and ampulla) because these types of polyps can progress to cancer. […] You may be given a combination of medications, including nonsteroidal anti-inflammatory drugs, anti-estrogen and chemotherapy. In some cases, you may need surgery. […] 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.

• #39 Familial Adenomatous Polyposis: Symptoms, Causes, Treatment

  https://www.healthline.com/health/colorectal-cancer/familial-adenomatous-polyposis

  FAP usually requires the removal of part or all of your large intestines. […] Partial or complete colectomy, or removal of your colon, is usually recommended for people with FAP. Its usually performed between your late teens and late 30s. […] Surgery doesnt cure FAP but can lower the risk of developing cancer. Polyps can still develop in other parts of your rectum, colon, or small intestines even after surgery. […] The nonsteroidal anti-inflammatory drug (NSAID) sulindac thats usually used to treat arthritis is sometimes prescribed to treat polyps in the rectum. […] Removal of polyps in the lower part of the small intestines is often recommended if: they cause symptoms, theyre large, a doctor thinks theres a high chance that theyll become cancerous. […] Desmoid tumors that are compressing your organs can be treated with: surgery, NSAIDs, anti-estrogen medications, chemotherapy, radiation therapy. […] Regular screening can improve the outcomes and lower your risk of developing advanced cancer. […] A doctor can advise you about how often you should get screened and whether youre eligible for clinical trials that may give you access to new treatments.

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

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

  There are several treatment options for FAP, including surgical resection, chemotherapy and targeted therapy, depending on the severity of the polyposis and the patients age. […] Surgical options as FAP treatment vary based on the severity of the disease: Total proctocolectomy with ileostomy: This procedure is considered the gold standard for patients with extensive polyp burden. It involves removing both the colon and rectum and diverting waste through a stoma. The 5-year survival rate after this surgery is approximately 98%. […] Colectomy with ileorectal anastomosis: For patients with fewer polyps, this surgery preserves the rectum, which improves quality of life. However, the risk of developing rectal cancer remains, so patients must continue regular surveillance. Survival rates remain high, with a 95% 10-year survival rate.

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

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

  Restorative proctocolectomy: A restorative proctocolectomy combines cancer prevention with improved bowel function. This procedure is particularly beneficial for younger patients, providing long-term survival benefits. […] While chemotherapy is not typically the first-line treatment for familial adenomatous polyposis (FAP), it plays a critical role when the condition progresses to colorectal cancer or other associated malignancies. FAP patients who develop colorectal cancer often require chemotherapy as part of their treatment regimen. […] Adjuvant chemotherapy: For FAP patients who have undergone surgery but have cancerous polyps, adjuvant chemotherapy may be necessary to prevent recurrence. Drugs like fluorouracil (5-FU) and oxaliplatin are commonly used in post-surgical settings to reduce the risk of metastasis or recurrence.

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

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

  Restorative proctocolectomy: A restorative proctocolectomy combines cancer prevention with improved bowel function. This procedure is particularly beneficial for younger patients, providing long-term survival benefits. […] While chemotherapy is not typically the first-line treatment for familial adenomatous polyposis (FAP), it plays a critical role when the condition progresses to colorectal cancer or other associated malignancies. FAP patients who develop colorectal cancer often require chemotherapy as part of their treatment regimen. […] Adjuvant chemotherapy: For FAP patients who have undergone surgery but have cancerous polyps, adjuvant chemotherapy may be necessary to prevent recurrence. Drugs like fluorouracil (5-FU) and oxaliplatin are commonly used in post-surgical settings to reduce the risk of metastasis or recurrence.

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

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

  Neoadjuvant chemotherapy: In some cases, neoadjuvant chemotherapy is used before surgery to shrink large tumors, making surgical removal easier. This approach has been particularly useful in familial adenomatous polyposis patients who develop large colorectal cancers that are challenging to remove surgically. […] Targeted therapy represents a significant advancement in the treatment of FAP, particularly in managing the adenomas and preventing progression to colorectal cancer. […] One of the most well-researched targeted therapies for familial adenomatous polyposis is celecoxib, a COX-2 inhibitor. By targeting the cyclooxygenase-2 enzyme, celecoxib has been shown to reduce the number and size of colorectal polyps in FAP patients. […] According to studies, individuals who have surgery early in life (Stage I or II) often live into their 70s and 80s, with minimal complications.

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

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

  Neoadjuvant chemotherapy: In some cases, neoadjuvant chemotherapy is used before surgery to shrink large tumors, making surgical removal easier. This approach has been particularly useful in familial adenomatous polyposis patients who develop large colorectal cancers that are challenging to remove surgically. […] Targeted therapy represents a significant advancement in the treatment of FAP, particularly in managing the adenomas and preventing progression to colorectal cancer. […] One of the most well-researched targeted therapies for familial adenomatous polyposis is celecoxib, a COX-2 inhibitor. By targeting the cyclooxygenase-2 enzyme, celecoxib has been shown to reduce the number and size of colorectal polyps in FAP patients. […] According to studies, individuals who have surgery early in life (Stage I or II) often live into their 70s and 80s, with minimal complications.

• #45 Familial adenomatous polyposis – Wikipedia

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

  Treatment for FAP depends on the genotype. Most individuals with the APC mutation will develop colon cancer by the age of 40, although the less-common attenuated version typically manifests later in life (40-70). Accordingly, in many cases, prophylactic surgery may be recommended before the age of 25, or upon detection if actively monitored. There are several surgical options that involve the removal of either the colon or both the colon and rectum. […] Prophylactic colectomy is indicated if more than a hundred polyps are present, if there are severely dysplastic polyps, or if multiple polyps larger than 1 cm are present. […] Treatment for the two milder forms of FAP may be substantially different from the more usual variant, as the number of polyps is far fewer, allowing more options.

• #46 Familial adenomatous polyposis – Wikipedia

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

  Treatment for FAP depends on the genotype. Most individuals with the APC mutation will develop colon cancer by the age of 40, although the less-common attenuated version typically manifests later in life (40-70). Accordingly, in many cases, prophylactic surgery may be recommended before the age of 25, or upon detection if actively monitored. There are several surgical options that involve the removal of either the colon or both the colon and rectum. […] Prophylactic colectomy is indicated if more than a hundred polyps are present, if there are severely dysplastic polyps, or if multiple polyps larger than 1 cm are present. […] Treatment for the two milder forms of FAP may be substantially different from the more usual variant, as the number of polyps is far fewer, allowing more options.

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

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

  At first, your doctor will remove any small polyps found during your colonoscopy exam. Eventually, though, the polyps will become too numerous to remove individually, usually by your late teens or early 20s. Then you will need surgery to prevent colon cancer. You will also need surgery if a polyp is cancerous. You may not need surgery for AFAP. […] Your surgeon may decide to perform your surgery laparoscopically, through several small incisions that require just a stitch or two to close. This minimally invasive surgery usually shortens your hospital stay and allows you to recover more quickly. […] Depending on your situation, you may have one of the following types of surgery to remove part or all of the colon: Subtotal colectomy with ileorectal anastomosis, in which the rectum is left in place; Total proctocolectomy with a continent ileostomy, in which the colon and rectum are removed and an opening (ileostomy) is created, usually on the right side of your abdomen; Total proctocolectomy with ileoanal anastomosis (also called J-pouch surgery), in which the colon and rectum are removed and a part of the small intestine is attached to the rectum.

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

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

  At first, your doctor will remove any small polyps found during your colonoscopy exam. Eventually, though, the polyps will become too numerous to remove individually, usually by your late teens or early 20s. Then you will need surgery to prevent colon cancer. You will also need surgery if a polyp is cancerous. You may not need surgery for AFAP. […] Your surgeon may decide to perform your surgery laparoscopically, through several small incisions that require just a stitch or two to close. This minimally invasive surgery usually shortens your hospital stay and allows you to recover more quickly. […] Depending on your situation, you may have one of the following types of surgery to remove part or all of the colon: Subtotal colectomy with ileorectal anastomosis, in which the rectum is left in place; Total proctocolectomy with a continent ileostomy, in which the colon and rectum are removed and an opening (ileostomy) is created, usually on the right side of your abdomen; Total proctocolectomy with ileoanal anastomosis (also called J-pouch surgery), in which the colon and rectum are removed and a part of the small intestine is attached to the rectum.

• #49 Attenuated Familial Adenomatous Polyposis: A Novel Treatment with Celecoxib – Practical Gastro

  https://practicalgastro.com/2016/02/06/attenuated-familial-adenomatous-polyposis-a-novel-treatment-with-celecoxib/

  If celecoxib becomes efficacious for this disease, it could offer patients an alternative non-surgical therapy which may reduce morbidity associated with colonic resection but would necessitate ongoing GI surveillance. […] To our knowledge, this is only the second case showing polyp eradication with use of celecoxib in patients with aFAP. This treatment for aFAP may be a novel non-surgical approach to this disease, and should be further investigated.

• #50 FAP Syndrome | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/f/fap

  A personalized care plan is vital because the symptoms and concerns of each patient differ. This treatment plan for FAP should be based on a full evaluation from experts in pediatric gastroenterology, surgery and human genetics. […] Routine colonoscopies and other medical tests can provide helpful information to guide the decision-making process. The care team may advise procedures to help delay surgery and reduce symptoms. […] For patients with FAP who are at a very high risk for colon cancer this may include: Taking out polyps found at screening colonoscopies to check for early signs of cancer. Taking out polyps that are causing symptoms, either with endoscopic procedures or surgery. […] Based on patient symptoms, genetic tests, and endoscopy results, you and your team may discuss surgery to remove the colon.

• #51 FAP Syndrome | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/f/fap

  A personalized care plan is vital because the symptoms and concerns of each patient differ. This treatment plan for FAP should be based on a full evaluation from experts in pediatric gastroenterology, surgery and human genetics. […] Routine colonoscopies and other medical tests can provide helpful information to guide the decision-making process. The care team may advise procedures to help delay surgery and reduce symptoms. […] For patients with FAP who are at a very high risk for colon cancer this may include: Taking out polyps found at screening colonoscopies to check for early signs of cancer. Taking out polyps that are causing symptoms, either with endoscopic procedures or surgery. […] Based on patient symptoms, genetic tests, and endoscopy results, you and your team may discuss surgery to remove the colon.

• #52 FAP Syndrome | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/f/fap

  A personalized care plan is vital because the symptoms and concerns of each patient differ. This treatment plan for FAP should be based on a full evaluation from experts in pediatric gastroenterology, surgery and human genetics. […] Routine colonoscopies and other medical tests can provide helpful information to guide the decision-making process. The care team may advise procedures to help delay surgery and reduce symptoms. […] For patients with FAP who are at a very high risk for colon cancer this may include: Taking out polyps found at screening colonoscopies to check for early signs of cancer. Taking out polyps that are causing symptoms, either with endoscopic procedures or surgery. […] Based on patient symptoms, genetic tests, and endoscopy results, you and your team may discuss surgery to remove the colon.

• #53 FAP Syndrome | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/f/fap

  At some point, all people with FAP must have their colon removed. This lessens the risk of developing colon cancer. Surgery can happen during the teen years or early 20s, and even before if tests show signs of cancer. […] Surgery to remove the colon is called a colectomy. In most cases, the surgeon will also do a J-pouch surgery. This involves making a J-shaped reservoir out of a patient’s small intestine to store and pass stool. […] Doctors use the least invasive methods they can when operating on children with FAP. These can include laparoscopic and robotic procedures. This can lead to faster healing, less pain and a shorter hospital stay. […] After surgery, the care team watches patients very closely for signs of infection or other problems. Most children who have had their colon removed will have bowel movements more often than other children.

• #54 FAP Syndrome | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/f/fap

  At some point, all people with FAP must have their colon removed. This lessens the risk of developing colon cancer. Surgery can happen during the teen years or early 20s, and even before if tests show signs of cancer. […] Surgery to remove the colon is called a colectomy. In most cases, the surgeon will also do a J-pouch surgery. This involves making a J-shaped reservoir out of a patient’s small intestine to store and pass stool. […] Doctors use the least invasive methods they can when operating on children with FAP. These can include laparoscopic and robotic procedures. This can lead to faster healing, less pain and a shorter hospital stay. […] After surgery, the care team watches patients very closely for signs of infection or other problems. Most children who have had their colon removed will have bowel movements more often than other children.

• #55 FAP Syndrome | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/f/fap

  At some point, all people with FAP must have their colon removed. This lessens the risk of developing colon cancer. Surgery can happen during the teen years or early 20s, and even before if tests show signs of cancer. […] Surgery to remove the colon is called a colectomy. In most cases, the surgeon will also do a J-pouch surgery. This involves making a J-shaped reservoir out of a patient’s small intestine to store and pass stool. […] Doctors use the least invasive methods they can when operating on children with FAP. These can include laparoscopic and robotic procedures. This can lead to faster healing, less pain and a shorter hospital stay. […] After surgery, the care team watches patients very closely for signs of infection or other problems. Most children who have had their colon removed will have bowel movements more often than other children.

• #56 Outcomes and complications of radiation therapy in patients with familial adenomatous polyposis – Gan – Journal of Gastrointestinal Oncology

  https://jgo.amegroups.org/article/view/13276/html

  Radiation therapy (RT) is an important treatment modality for malignancies affecting FAP patients, including colorectal cancer, desmoid tumors, medulloblastomas, and gliomas. […] Unfortunately, there are no data that describe the toxicity or risk of secondary malignancies among patients with FAP receiving RT. Our purpose was to analyze these clinical outcomes of patients with FAP treated with RT. […] In this cohort, RT was well tolerated with adverse effects comparable with non-FAP patients. Secondary in-field tumors occurred in 2 of 15 patients and their increased risk in this cohort was likely due to prior predilection from FAP itself, although an increased role of RT cannot be ruled out. […] This study represents the only known series evaluating toxicity, and secondary malignancy among patients with FAP treated with RT. It is also the largest RT study that we were able to identify for FAP-related desmoid tumors or colorectal cancer.

• #57 Outcomes and complications of radiation therapy in patients with familial adenomatous polyposis – Gan – Journal of Gastrointestinal Oncology

  https://jgo.amegroups.org/article/view/13276/html

  Radiation therapy (RT) is an important treatment modality for malignancies affecting FAP patients, including colorectal cancer, desmoid tumors, medulloblastomas, and gliomas. […] Unfortunately, there are no data that describe the toxicity or risk of secondary malignancies among patients with FAP receiving RT. Our purpose was to analyze these clinical outcomes of patients with FAP treated with RT. […] In this cohort, RT was well tolerated with adverse effects comparable with non-FAP patients. Secondary in-field tumors occurred in 2 of 15 patients and their increased risk in this cohort was likely due to prior predilection from FAP itself, although an increased role of RT cannot be ruled out. […] This study represents the only known series evaluating toxicity, and secondary malignancy among patients with FAP treated with RT. It is also the largest RT study that we were able to identify for FAP-related desmoid tumors or colorectal cancer.

• #58 Outcomes and complications of radiation therapy in patients with familial adenomatous polyposis – Gan – Journal of Gastrointestinal Oncology

  https://jgo.amegroups.org/article/view/13276/html

  FAP is not known to be associated with an increase in RT toxicity and can be considered separately from the multiple established genetic syndromes that increase radiosensitivity, which leads to increased toxicity given the same dose of radiation. […] While treating patients with FAP requires special attention to the risk of possible future malignancies, our data does not support foregoing standard of care RT. We do not believe this data represents an increased risk of secondary malignancy for FAP patients, as all second in-field cancers were diseases known to be associated with FAP itself. Desmoid tumors in patients with FAP tended to exhibit aggressive growth, but local control was achieved in some patients.

• #59 Outcomes and complications of radiation therapy in patients with familial adenomatous polyposis – Gan – Journal of Gastrointestinal Oncology

  https://jgo.amegroups.org/article/view/13276/html

  FAP is not known to be associated with an increase in RT toxicity and can be considered separately from the multiple established genetic syndromes that increase radiosensitivity, which leads to increased toxicity given the same dose of radiation. […] While treating patients with FAP requires special attention to the risk of possible future malignancies, our data does not support foregoing standard of care RT. We do not believe this data represents an increased risk of secondary malignancy for FAP patients, as all second in-field cancers were diseases known to be associated with FAP itself. Desmoid tumors in patients with FAP tended to exhibit aggressive growth, but local control was achieved in some patients.

• #60 Azthena logo with the word Azthena

  https://www.news-medical.net/news/20191003/Innovative-drug-treatment-developed-for-familial-adenomatous-polyposis.aspx

  „Our goal as therapists, in addition to preventing cancer, is to improve the quality of life of our patients and their families and to enable them to live as full and normal lives as possible,” Prof. Kariv concludes. „The new therapeutic approach we are developing may allow patients to delay surgical intervention or even prevent it entirely.”

• #61 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

  Familial adenomatous polyposis (FAP) is an autosomal dominant cancer predisposition syndrome marked by extensive colorectal polyposis and a high risk of colorectal cancer (CRC). Having access to screening and enrollment programs can improve survival for patients with FAP by enabling them to undergo surgery before the development of colorectal cancer. Provided that there are a variety of surgical options available to treat colorectal polyps in patients with adenomatous polyposis, the appropriate surgical option for each patient should be considered. The gold-standard treatment to reduce this risk is prophylactic colectomy, typically by the age of 40. However, colectomy is linked to morbidity and constitutes an ineffective way at preventing extra-colonic disease manifestations, such as desmoid disease, thyroid malignancy, duodenal polyposis, and cancer. Moreover, extensive studies have been conducted into the use of chemopreventive agents to prevent disease progression and delay the necessity for a colectomy as well as the onset of extracolonic disease. The ideal chemoprevention agent should demonstrate a biologically plausible mechanism of action and provide safety, easy tolerance over an extended period of time and a lasting and clinically meaningful effect. Although many pharmaceutical and non-pharmaceutical products have been tested through the years, there has not yet been a chemoprevention agent that meets these criteria. Thus, it is necessary to develop new FAP agents that target novel pathways, such as the mTOR pathway. The aim of this article is to review the prior literature on FAP in order to concentrate the current and future perspectives of diagnosis and treatment. In conclusion, we will provide an update on the diagnostic and therapeutic options, surgical or pharmaceutical, while focusing on the potential treatment strategies that could further reduce the risk of CRC.

• #62 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

  Familial adenomatous polyposis (FAP) is an autosomal dominant cancer predisposition syndrome marked by extensive colorectal polyposis and a high risk of colorectal cancer (CRC). Having access to screening and enrollment programs can improve survival for patients with FAP by enabling them to undergo surgery before the development of colorectal cancer. Provided that there are a variety of surgical options available to treat colorectal polyps in patients with adenomatous polyposis, the appropriate surgical option for each patient should be considered. The gold-standard treatment to reduce this risk is prophylactic colectomy, typically by the age of 40. However, colectomy is linked to morbidity and constitutes an ineffective way at preventing extra-colonic disease manifestations, such as desmoid disease, thyroid malignancy, duodenal polyposis, and cancer. Moreover, extensive studies have been conducted into the use of chemopreventive agents to prevent disease progression and delay the necessity for a colectomy as well as the onset of extracolonic disease. The ideal chemoprevention agent should demonstrate a biologically plausible mechanism of action and provide safety, easy tolerance over an extended period of time and a lasting and clinically meaningful effect. Although many pharmaceutical and non-pharmaceutical products have been tested through the years, there has not yet been a chemoprevention agent that meets these criteria. Thus, it is necessary to develop new FAP agents that target novel pathways, such as the mTOR pathway. The aim of this article is to review the prior literature on FAP in order to concentrate the current and future perspectives of diagnosis and treatment. In conclusion, we will provide an update on the diagnostic and therapeutic options, surgical or pharmaceutical, while focusing on the potential treatment strategies that could further reduce the risk of CRC.

• #63 Drug Combo Decreases Colorectal Polyps in People with FAP – NCI

  https://www.cancer.gov/news-events/cancer-currents-blog/2018/fap-erlotinib-sulindac-colorectal-polyps

  The trial enrolled 92 people with FAP beginning in 2010. […] After the first 67 participants had finished 6 months of treatment, the trial’s Data and Safety Monitoring Board recommended stopping enrollment, due to the dramatic reduction in duodenal polyps seen in the patients who had received erlotinib and sulindac. […] During follow-up, patients who had received 6 months of erlotinib and sulindac also experienced a net drop of approximately 70% in the number of colorectal polyps from the start of the study, compared with the placebo group. […] Unanswered questions about using such a drug regimen widely in people with FAP include whether it can reduce the number of duodenal and colorectal polyps long-term, as well as reduce the risk of polyps progressing to cancer. […] The researchers would also like to know if the drugs can reduce the need for colectomy in people with FAP, said Dr. Samadder.

• #64 Drug Combo Decreases Colorectal Polyps in People with FAP – NCI

  https://www.cancer.gov/news-events/cancer-currents-blog/2018/fap-erlotinib-sulindac-colorectal-polyps

  The research team is currently enrolling patients into a new trial that is looking at whether a reduced dose of erlotinib alone, given less often, would be as effective but less toxic than the combination used in this trial. […] „We’re not treating cancer, we’re trying to prevent it, so you need to have a drug [regimen] that’s highly tolerable,” said Dr. Samadder.

• #65 Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4248206/

  Due to these properties, celecoxib was approved by the Food and Drug Administration (FDA) in 1999 and by the European Medicines Agency (EMEA) in 2003 to reduce the number of adenomatous colorectal polyps in individuals with FAP in conjunction with usual care (e.g., endoscopic surveillance and surgery). […] In this way, the challenge of the working team (surgeon, gastroenterologist, genetic counselors and others) is to take individual decisions throughout the disease evolution based on the best available evidences and recommendations.

• #66 FAP Syndrome | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/f/fap

  A personalized care plan is vital because the symptoms and concerns of each patient differ. This treatment plan for FAP should be based on a full evaluation from experts in pediatric gastroenterology, surgery and human genetics. […] Routine colonoscopies and other medical tests can provide helpful information to guide the decision-making process. The care team may advise procedures to help delay surgery and reduce symptoms. […] For patients with FAP who are at a very high risk for colon cancer this may include: Taking out polyps found at screening colonoscopies to check for early signs of cancer. Taking out polyps that are causing symptoms, either with endoscopic procedures or surgery. […] Based on patient symptoms, genetic tests, and endoscopy results, you and your team may discuss surgery to remove the colon.

• #67 Familial Adenomatous Polyposis | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/familial-adenomatous-polyposis

  Because all individuals with FAP develop gastrointestinal polyps, gastroenterologists often lead the treatment discussion with patients and families, and refer to other specialties such as oncology and endocrinology as needed. […] For most individuals with FAP, treatment will eventually include surgery (colectomy) to remove all or part of the colon. This is performed as a preventative measure to reduce the risk of colon cancer and is usually performed before age 40. Most colectomies in patients with FAP are performed between late teens and late 30s. […] Treatment may also include: Surgery to remove polyps or growths, Chemotherapy, Radiation, Medications, Investigational therapies.

• #68 Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

  https://www.wjgnet.com/1007-9327/full/v20/i44/16620.htm

  The decision-making process to surgical alternatives must be tailored to the disease severity as well as to patients age, clinical conditions and personal preferences. […] Proctocolectomy with ileostomy is the less common operation performed and must be reserved for patients with low rectal cancer, sphincter dysfunction, when a mesenteric desmoid prevents pouch construction or when it is impossible to pull the pouch down to the pelvis. […] The decision-making process should not be limited to the conventional confrontation of pros and cons of ileorectal anastomosis or restorative proctocolectomy. […] The rationale of performing a prophylactic surgery is a mainstay of FAP management. […] Patients should undergo an appropriate clinical evaluation and receive psychological support, since a great part of this population is young and recognize they suffer from a hereditary condition that usually affects other family members and deserves surveillance for life.

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

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

  At first, your doctor will remove any small polyps found during your colonoscopy exam. Eventually, though, the polyps will become too numerous to remove individually, usually by your late teens or early 20s. Then you will need surgery to prevent colon cancer. You will also need surgery if a polyp is cancerous. You may not need surgery for AFAP. […] Your surgeon may decide to perform your surgery laparoscopically, through several small incisions that require just a stitch or two to close. This minimally invasive surgery usually shortens your hospital stay and allows you to recover more quickly. […] Depending on your situation, you may have one of the following types of surgery to remove part or all of the colon: Subtotal colectomy with ileorectal anastomosis, in which the rectum is left in place; Total proctocolectomy with a continent ileostomy, in which the colon and rectum are removed and an opening (ileostomy) is created, usually on the right side of your abdomen; Total proctocolectomy with ileoanal anastomosis (also called J-pouch surgery), in which the colon and rectum are removed and a part of the small intestine is attached to the rectum.

• #70 Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4248206/

  Familial adenomatous polyposis (FAP) is an autosomal dominant inherited syndrome characterized by multiple adenomatous polyps (predisposing to colorectal cancer development) and numerous extracolonic manifestations. […] As a precancerous hereditary condition, the rationale of performing a prophylactic surgery is a mainstay of FAP management. […] After diagnosis, surgery represents the mainstay of treatment for FAP patients. Surgical options include total colectomy with ileorectal anastomosis (IRA), total proctocolectomy with ileostomy (TPI), and restorative proctocolectomy (RPC) with or without mucosectomy and ileal-pouch anal anastomosis. […] The present manuscript aims to raise and discuss several controversial issues concerning the surgical treatment of patients diagnosed with FAP.

• #71 Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4248206/

  Once FAP is diagnosed, there is a recommendation for immediate surgery for severe cases (1000 colonic and/or 20 rectal polyps) as soon as practicable. […] The decision-making process to surgical alternatives must be tailored to the disease severity as well as to patients age, clinical conditions and personal preferences. […] Proctocolectomy with ileostomy is the less common operation performed and must be reserved for patients with low rectal cancer, sphincter dysfunction, when a mesenteric desmoid prevents pouch construction or when it is impossible to pull the pouch down to the pelvis. […] IRA is generally recommended for patients with few rectal polyps, with AFAP, a family history of mild phenotype and for those young women with desire to be pregnant. […] Patients with other features should undergo RPC.

• #72 Familial Adenomatous Polyposis Treatment & Management: Medical Care, Surgical Care, Consultations

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

  Medical care is mainly based on endoscopic surveillance to detect the onset of polyposis. Consequently, surgery would prevent the development of colon cancer. However, in view of the increased risk for the development of other cancers, continued medical follow-up is required with a number of surveillance tests, as colectomy would only address the potential risk of colon cancer. […] A number of drugs (eg, celecoxib, sulindac) have been used successfully to reduce the number and the size of polyps in patients with FAP. However, they are insufficient as a primary modality of therapy. […] Because of the diffuse nature of the polyposis and the inevitability of colorectal cancer, surgical therapy is ultimately required. Surgical therapy should be performed before the onset of cancer. […] Colectomy with mucosal proctectomy and ileoanal pouch pull-through (proctocolectomy with ileal pouch-anal anastomosis/IPAA) is the procedure of choice at many centers. This procedure allows retention of the rectal function. Other options include subtotal colectomy with ileoanal anastomosis and total proctocolectomy with ileostomy.

• #73 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

  Familial adenomatous polyposis (FAP) is an autosomal dominant cancer predisposition syndrome marked by extensive colorectal polyposis and a high risk of colorectal cancer (CRC). Having access to screening and enrollment programs can improve survival for patients with FAP by enabling them to undergo surgery before the development of colorectal cancer. Provided that there are a variety of surgical options available to treat colorectal polyps in patients with adenomatous polyposis, the appropriate surgical option for each patient should be considered. The gold-standard treatment to reduce this risk is prophylactic colectomy, typically by the age of 40. However, colectomy is linked to morbidity and constitutes an ineffective way at preventing extra-colonic disease manifestations, such as desmoid disease, thyroid malignancy, duodenal polyposis, and cancer. Moreover, extensive studies have been conducted into the use of chemopreventive agents to prevent disease progression and delay the necessity for a colectomy as well as the onset of extracolonic disease. The ideal chemoprevention agent should demonstrate a biologically plausible mechanism of action and provide safety, easy tolerance over an extended period of time and a lasting and clinically meaningful effect. Although many pharmaceutical and non-pharmaceutical products have been tested through the years, there has not yet been a chemoprevention agent that meets these criteria. Thus, it is necessary to develop new FAP agents that target novel pathways, such as the mTOR pathway. The aim of this article is to review the prior literature on FAP in order to concentrate the current and future perspectives of diagnosis and treatment. In conclusion, we will provide an update on the diagnostic and therapeutic options, surgical or pharmaceutical, while focusing on the potential treatment strategies that could further reduce the risk of CRC.

• #74 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. […] Your doctor may recommend surgery to remove the upper part of the small intestine (duodenum and ampulla) because these types of polyps can progress to cancer. […] You may be given a combination of medications, including nonsteroidal anti-inflammatory drugs, anti-estrogen and chemotherapy. In some cases, you may need surgery. […] 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.

• #75 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

  Familial adenomatous polyposis increases colorectal cancer risk. […] Although the genetic mutation is rare and only makes up for 1% of colorectal cancer cases, patients with FAP have a 100% likelihood of developing colorectal cancer by age 30, Vilar-Sanchez says. […] If FAP is confirmed, the patient will need a colonoscopy every year or sometimes more frequently. Patients may also receive an upper endoscopy to check for polyps in the upper gastrointestinal tract as well as imaging to check for desmoid tumors in the abdomen. […] To stop a polyp from becoming cancer, it must be removed. […] By age 30, if not sooner, the colon should be removed through a surgery known as a colectomy. […] 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.

• #76 Azthena logo with the word Azthena

  https://www.news-medical.net/news/20191003/Innovative-drug-treatment-developed-for-familial-adenomatous-polyposis.aspx

  „Our goal as therapists, in addition to preventing cancer, is to improve the quality of life of our patients and their families and to enable them to live as full and normal lives as possible,” Prof. Kariv concludes. „The new therapeutic approach we are developing may allow patients to delay surgical intervention or even prevent it entirely.”

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