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MUTYH-Related Attenuated Familial Adenomatous Polyposis

AFAP


Presentation

  • This handbook aims to offer a integrated approach for all physicians (doctors) who deal with these issues, by presenting up-to-date discussion from genetics through treatment, to implications of genetic counseling.[books.google.com]
  • Cancer might develop as early as the age of five, though typically presents later than classical FAP. [1] See also [ edit ] Familial adenomatous polyposis Birt–Hogg–Dubé syndrome Cowden syndrome Cronkhite-Canada syndrome Juvenile polyposis MUTYH Peutz-Jeghers[en.wikipedia.org]
  • It is important to note that approximately 20% to 30% of FAP cases are caused by new mutations, meaning that an APC germline mutations may be present in an individual even if it is absent in both parents. 84 Also, due to the autosomal recessive inheritance[myriadgenetics.eu]
  • In our sample, cancer was present in three of four patients with MUTYH biallelic mutations, in two of three with monoallelic mutations, and only in 2 of the 18 patients without mutations.[nature.com]
Familial Adenomatous Polyposis
  • PATIENTS: All of the patients with familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MUTYH-associated polyposis were included. Medical charts and imaging reports were analyzed for data on adrenal lesions.[ingentaconnect.com]
  • They can be categorized into three conditions: familial adenomatous polyposis, attenuated familial adenomatous polyposis and MYH -associated polyposis.[myriadgenetics.eu]
  • From Wikipedia, the free encyclopedia Jump to navigation Jump to search Attenuated familial adenomatous polyposis Other names Attenuated familial polyposis coli Attenuated familial adenomatous polyposis is a form of familial adenomatous polyposis, a cancer[en.wikipedia.org]
  • PubMed Search: "Familial adenomatous polyposis" attenuated AFAP Advertisement Page views in 2018: 600 Page views in 2019 to date: 324 Cite this page: Findeis-Hosey J. Familial adenomatous polyposis of colon, Attenuated FAP (AFAP).[pathologyoutlines.com]
  • Adenomatous Polyposis 196 Surgery for Familial Adenomatous Polyposis 203 Duodenal Adenomas in Familial Adenomatous Polyposis 219 FAPAssociated Desmoid Tumours 238 Attenuated Familial Adenomatous Polyposis Diagnosis Management and Future Prognosis 253[books.google.com]
Italian
  • We searched for APC and MUTYH germline alterations in Italian and Greek patients with attenuated polyposis, a phenotypic variant whose genetic cause remains unknown in many cases.Methods: We studied 26 unrelated patients (and 16 relatives) with multiple[semanticscholar.org]
  • We performed a screening of five MUTYH recurrent pathogenic mutations in 501 Italian and 144 Greek controls.[nature.com]
  • MUTYH c.933 3A C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis. International journal of cancer. 2013;132:1060-9. 19. Mazzei F, Viel A, Bignami M.[imj.ie]
  • PMID 14991577 Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.[atlasgeneticsoncology.org]
  • Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.[ncbi.nlm.nih.gov]
Falling
  • These situations can fall into a gray area, not only for diagnosis, but also for the correct treatment and follow-up. New developments in pathophysiology and treatment options are leading to new questions.[books.google.com]
  • Genet Test. 2007 Fall;11(3):315-20. The first mutations in the MYH gene reported in Moroccan colon cancer patients. Laarabi FZ, Cherkaoui Jaouad I, Baert-Desurmont S, Ouldim K, Ibrahimi A, Kanouni N, Frebourg T, Sefiani A.[umd.be]
Goiter
  • Some affected individuals develop sebaceous gland tumors and more recently, thyroid abnormalities (multinodular goiter, single nodules, and papillary thyroid cancer) have been reported.[ncbi.nlm.nih.gov]
  • More recently, thyroid abnormalities (multinodular goiter, single nodules, and papillary thyroid cancer) have been reported in some studies. Some affected individuals develop sebaceous gland tumors.[familyhistorybowelcancer.wordpress.com]
Nightmare
  • Accordingly, Lynch and Smyrk 37 defined the disease “a diagnostic nightmare.”[nature.com]
Aspiration
  • Abnormal findings on thyroid ultrasound examination should be evaluated by a thyroid specialist to determine what combination of monitoring, surgery, and/or fine needle aspiration (FNA) is appropriate.[familyhistorybowelcancer.wordpress.com]
Abdominal Pain
  • pain, anemia, and/or mucosal discharge 4.[radiopaedia.org]
  • Nonspecific symptoms, such as rectal bleeding, diarrhea and abdominal pain in young people may suggest the presence of one of these syndromes. Most people don’t have symptoms until they develop colon cancer at an early age (usually before age 50).[annapoliscolon.com]
  • pain Unexplained weight loss Change in bowel habits Individuals with Familial Adenomatous Polyposis Syndrome also have congenital hypertrophy of the pigmented epithelium of the retina.[dovemed.com]
  • The most common symptoms of classic FAP are abdominal pain, cramping, and vomiting (with blood in the vomit) or bleeding with bowel movements secondary to the presence of 100 or more adenomatous polyps in the small and/or large intestines.[chop.edu]
  • Symptoms of FAP Typical When the disease is advanced Blood in the stool Continued weight loss Thin stools Continued lack of energy Diarrhea and/or constipation Abdominal pain, cramping, or bloating Anemia There are also such extra-colonic features of[czytelniamedyczna.pl]

Workup

Endoscopy Abnormal
Polyps
  • Definition / general Subtype of familial adenomatous polyposis (FAP) characterized by fewer than 100 adenomatous colorectal polyps Colonic adenomatous polyps have high risk for progression to colorectal adenocarcinoma (69% cumulative risk by age 80) ([pathologyoutlines.com]
  • […] of from 1 to 150 colorectal polyps, but no upper intestinal polyps; and that mutations in region 3 are associated with the presence of less than 50 colorectal polyps.[medicinenet.com]
  • Serrated adenomas, hyperplastic/sessile serrated polyps, and mixed (hyperplastic and adenomatous) polyps can also occur. The lifetime risk of duodenal cancer is about 4%.[ncbi.nlm.nih.gov]
  • Polyps can be exclusively adenomatous or mixed adenomatous/hyperplastic.[familyhistorybowelcancer.wordpress.com]
  • Often a single polyp is involved, but more complex situations are also encountered, including the well-defined pattern of polyposis.[books.google.com]

Treatment

  • These situations can fall into a gray area, not only for diagnosis, but also for the correct treatment and follow-up. New developments in pathophysiology and treatment options are leading to new questions.[books.google.com]
  • Cancer 1993;71:2709 ) Extracolonic manifestations of classical FAP are less common in attenuated FAP Diagnosis Classically reserved for patients with fewer than 100 colonic adenomatous polyps but exact diagnostic criteria have not been firmly established Treatment[pathologyoutlines.com]
  • Treatment of acute hyperkalaemia in adults [PDF] This guideline has been developed to improve the treatment of acute hyperkalaemia and reduce the risk of complications associated with hyperkalaemia and its treatment. This guideline is a...[evidence.nhs.uk]

Prognosis

  • […] in Familial Adenomatous Polyposis 196 Surgery for Familial Adenomatous Polyposis 203 Duodenal Adenomas in Familial Adenomatous Polyposis 219 FAPAssociated Desmoid Tumours 238 Attenuated Familial Adenomatous Polyposis Diagnosis Management and Future Prognosis[books.google.com]
  • Treatment and prognosis Familial adenomatous polyposis syndrome accounts for 0.5% of CRC cases with 7% of FAP carriers developing CRC by age 21 with almost every carrier developing CRC by 35-40 years 1,2.[radiopaedia.org]
  • PMID: 17947820 Prognosis Church J, Kravochuck S Dis Colon Rectum 2016 Jun;59(6):565-9. doi: 10.1097/DCR.0000000000000575. PMID: 27145315 Kastrinos F, Syngal S Cancer J 2011 Nov-Dec;17(6):405-15. doi: 10.1097/PPO.0b013e318237e408.[ncbi.nlm.nih.gov]
  • […] of Familial Adenomatous Polyposis Syndrome (Outcomes/Resolutions) The prognosis of Familial Adenomatous Polyposis Syndrome depends on how early a diagnosis and medical intervention is performed With no medical intervention, the median life expectancy[dovemed.com]
  • Prognosis Patients with untreated FAP have a median life expectancy of 42 years. Life expectancy is extended greatly in those treated with colectomy.[emedicine.medscape.com]

Etiology

  • Etiology Church J, Kravochuck S Dis Colon Rectum 2016 Jun;59(6):565-9. doi: 10.1097/DCR.0000000000000575.[ncbi.nlm.nih.gov]
  • (Etiology) The common causes of Familial Adenomatous Polyposis Syndrome include: Familial Adenomatous Polyposis Syndrome is caused by a genetic mutation In the majority of cases, this is a mutation in the APC tumor suppressor gene that is located on chromosome[dovemed.com]
  • Clearly, there are cases of unknown etiology, and there are probably as-yet unidentified genes that may predispose to adenomatosis . But changing technologies and testing standards can also affect interpretation of genetic test results.[familyhistorybowelcancer.wordpress.com]
  • Etiology FAP is caused by a germline mutation of the APC tumor suppressor gene, located on band 5q21. Most mutations of the APC gene are nonsense or frameshift mutations, leading to truncation of the APC protein (nonfunctional protein).[emedicine.medscape.com]

Epidemiology

  • Coverage of each anatomic site includes epidemiology, screening, and prevention; molecular biology and genetics; pathology; anatomy and staging; and clinical management.[books.google.com]
  • […] risk for progression to colorectal adenocarcinoma (69% cumulative risk by age 80) ( Gastroenterology 2004;127:444 ) Essential features FAP variant characterized by markedly fewer polyps Due to a defect in APC (5q21) Patients might not require colectomy Epidemiology[pathologyoutlines.com]
  • Netherlands 4 Department of Surgery, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands 5 Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands 6 Department of Clinical Epidemiology[journals.lww.com]
  • Epidemiology of familiial adenomatous polyposis in Finland: inpact of screening on colorectal cancer rate and suvival. Gut 33: 357-360. Ivanovich, J. et al. (1999). A practical approach to familial and hereditary colorectal cancer.[ryanleehollandfoundation.org]
  • Epidemiology United States data Estimates vary from 1 case in 6,850 persons to 1 case in 31,250 persons. International data The frequency is constant worldwide.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • New developments in pathophysiology and treatment options are leading to new questions.[books.google.com]
  • In: Sleisenger & Fordtran's Gastrointestinal and Liver Disease: Pathophysiology, Diagnosis, Management. 8th ed. Philadelphia: Saunders Elsevier; 2006. 2759-810. Quinn KP, Lightner AL, Pendegraft RS, Enders FT, Boardman LA, Raffals LE.[emedicine.medscape.com]
  • Haematology Home Genes Leukemias Solid Tumors Cancer-Prone Deep Insight Case Reports Journals Portal Teaching X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA Written 2006-06 Benedetta Toschi, Maurizio Genuardi Department of Clinical Pathophysiology[atlasgeneticsoncology.org]
  • Since then, a great body of evidence has been generated, including pathophysiology, genetics, clinical phenotype, and prevention.[dovepress.com]

Prevention

  • Coverage of each anatomic site includes epidemiology, screening, and prevention; molecular biology and genetics; pathology; anatomy and staging; and clinical management.[books.google.com]
  • Colon cancer is virtually always prevented by screening and properly timed colectomy. This is similar for duodenal cancer. Other cancers are usually detected early, rather than prevented.[rarediseases.org]
  • Since Familial Adenomatous Polyposis Syndrome is a genetic disorder, there is no definitive prevention.[dovemed.com]
  • In: Secondary Prevention of Colorectal Cancer. An International Perspective. Basel, Switzerland: Karger; 1986. Vol 10: 55-63. McEwen JE, McCarty K, Reilly PR.[emedicine.medscape.com]
  • As a consequence, only 15-30% of CRC patients and their relatives who would qualify for referral are appropriately referred for preventive measures. These delays in detecting and managing cancer can lead to unnecessary morbidity and mortality.[dare.uva.nl]

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