Poliposis adenomatosa familiar

Gastroenterología y Hepatología - Tập 29 - Trang 625-635 - 2006
David Parés1, Miguel Pera1, Sara González2, Montserrat Pascual Cruz2, Ignacio Blanco2
1Unidad de Cirugía Colorrectal, Servicio de Cirugía General y Digestiva, Hospital Universitari del Mar, Barcelona, España
2Unidad de Consejo Genético. Institut Català d’Oncologia. L’Hospitalet de Llobregat. Barcelona. España

Tài liệu tham khảo

Bronner, 2003, Gastrointestinal polyposis syndromes, Am J Med Genet A, 122, 335, 10.1002/ajmg.a.20476 Grady, 2003, Genetic testing for high-risk colon cancer patients, Gastroenterology, 124, 1574, 10.1016/S0016-5085(03)00376-7 Castells, 2004, Guía de práctica clínica sobre la prevención del cáncer colorrectal, Gastroenterol Hepatol, 27, 573 Burt, 2005, Genetic testing for inherited colon cancer, Gastroenterology, 128, 1696, 10.1053/j.gastro.2005.03.036 De la Chapelle, 2004, Genetic predisposition to colorectal cancer, Nat Rev Cancer, 4, 769, 10.1038/nrc1453 Sener, 1984, The spectrum of polyposis, Surg Gynecol Obstet, 159, 525 Weitz, 2005, Colorectal cancer, Lancet, 365, 153, 10.1016/S0140-6736(05)17706-X Campbell, 1994, Familial adenomatous polyposis, Br J Surg, 81, 1722, 10.1002/bjs.1800811207 Iwama, 2004, A clinical overview of familial adenomatous polyposis derived from the database of the Polyposis Registry of Japan, Int J Clin Oncol, 9, 308, 10.1007/s10147-004-0414-4 Fearnhead, 2001, The ABC of APC, Human Molecular Genetics, 10, 721, 10.1093/hmg/10.7.721 Aretz, 2004, Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis, Eur J Hum Genet, 12, 52, 10.1038/sj.ejhg.5201088 Chimenos-Küstner, 2005, Poliposis familiar hereditaria y síndrome de Gardner: aportación de la exploración odontoestomatológica a su diagnóstico y descripción de un caso, Med Oral Patol Oral Cir Bucal, 10, 402 Gardner, 1953, Multiple cutaneous and subcutaneous lesions occuring simultaneously with hereditary intestinal polyposis and osteomas, Am J Hum Genet, 5, 139 Abraham, 2000, Fundic gland polyps in familial adenomatous polyposis: neoplasms with frequent somatic adenomatous polyposis coli gene alterations, Am J Pathol, 157, 747, 10.1016/S0002-9440(10)64588-9 Zwick, 1997, Gastric adenocarcinoma and dysplasia in fundic gland polyps of a patient with attenuated adenomatous polyposis coli, Gastroenterology, 113, 659, 10.1053/gast.1997.v113.pm9247488 Hofgartner, 1999, Gastric adenocarcinoma associated with fundic gland polyps in patient with attenuated familial adenomatous polyposis, Am J Gastroenterol, 94, 2275, 10.1111/j.1572-0241.1999.01312.x Offerhaus, 1992, The risk of upper gastrointestinal cancer in familial adenomatous polyposis, Gastroenterology, 102, 1980, 10.1016/0016-5085(92)90322-P Bulow, 2004, Duodenal adenomatosis in familial adenomatous polyposis, Gut, 53, 381, 10.1136/gut.2003.027771 Saurin, 2004, Surveillance of duodenal adenomas in familial adenomatous polyposis reveals high cumulative risk of advanced disease, J Clin Oncol, 22, 493, 10.1200/JCO.2004.06.028 Burke, 1999, The natural history of untreated duodenal and ampullary adenomas in patients with familial adenomatous polyposis followed in an endoscopic surveillance program, Gastrointest Endosc, 49, 358, 10.1016/S0016-5107(99)70013-1 Spigelman, 1989, Upper gastrointestinal cancer in patients with familial adenomatous polyposis, Lancet, 2, 783, 10.1016/S0140-6736(89)90840-4 Schlemper, 2000, The Vienna classification of gastrointestinal epithelial neoplasia, Gut, 47, 251, 10.1136/gut.47.2.251 Galle, 1999, Causes of death in familial adenomatous polyposis, Scand J Gastroenterol, 34, 808, 10.1080/003655299750025741 Church, 2003, Practice parameters for the treatment of patients with dominantly inheritated colorectal cancer (familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer), Dis Colon Rectum, 46, 1001, 10.1007/s10350-004-7273-y Middleton, 2000, Desmoids in familial adenomatous polyposis are monoclonal proliferations, Br J Cancer, 82, 827, 10.1054/bjoc.1999.1007 Bertario, 2003, Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis, J Clin Oncol, 21, 1698, 10.1200/JCO.2003.09.118 Eccles, 1996, Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene, Am J Hum Genet, 59, 1193 Gardner, 1997, The clinical correlates of a 3’ truncating mutation (codons 1982-1983) in the adenomatous polyposis coli gene, Gastroenterology, 113, 326, 10.1016/S0016-5085(97)70111-2 Sturt, 2004, Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation, Gut, 53, 1832, 10.1136/gut.2004.042705 Church, 2005, Staging intra-abdominal desmoid tumours in familial adenomatous polyposis: a search for a uniform approach to a troubling disease, Dis Colon Rectum, 48, 1528, 10.1007/s10350-005-0018-8 Reyes, 2002, Osteomatous jaw lesions in familial adenomatous polyposis, Gastroenterol Hepatol, 25, 387, 10.1016/S0210-5705(02)70271-9 Leppard, 1975, Epidermoid cysts, polyposis coli and Gardner’s syndrome, Br J Surg, 62, 387, 10.1002/bjs.1800620515 Kasner, 1992, A histopathologic study of the pigmented fundus lesions in familial adenomatous polyposis, Retina, 12, 35, 10.1097/00006982-199212010-00008 Llompart, 1994, Hipertrofia congénita del epitelio pigmentario de la retina, Rev Esp Enf Digest, 86, 777 Giardiello, 1991, Risk of hepatoblastoma in familial adenomatous polyposis, J Pediatr, 119, 766, 10.1016/S0022-3476(05)80297-5 Cruz-Correa, 2003, Familial adenomatous polyposis, Gastrointest Endosc, 58, 885, 10.1016/S0016-5107(03)02336-8 Soravia, 1998, Genotype-phenotype correlations in attenuated adenomatous polyposis coli, Am J Hum Genet, 62, 1290, 10.1086/301883 Moisio, 2002, Genetic and clinical characterisation of familial adenomatous polyposis: a population based study, Gut, 50, 845, 10.1136/gut.50.6.845 Lipton, 2004, The multiple colorectal adenoma phenotype and MYH, a base excision repair gene, Clin Gastroenterol Hepatol, 2, 633, 10.1016/S1542-3565(04)00286-1 Varesco, 2004, Familial adenomatous polyposis: genetics and epidemiology, Tech Coloproctol, 8, 305S, 10.1007/s10151-004-0182-1 Farrington, 2005, Germline susceptibility to colorectal cancer due to base-excision repair gene defects, Am J Hum Genet, 77, 112, 10.1086/431213 Tulchinsky, 2005, Extracolonic manifestations of familial adenomatous polyposis after proctocolectomy, Arch Surg, 140, 159, 10.1001/archsurg.140.2.159 Van Duijvendijk, 2000, Quality of life after total colectomy with ileorectal anastomosis or proctocolectomy and ileal pouch-anal anastomosis for familial adenomatous polyposis, Br J Surg, 87, 590, 10.1046/j.1365-2168.2000.01442.x Church, 1996, Quality of life after prophylactic colectomy and ileorectal anastomosis in patients with familial adenomatous polyposis, Dis Colon Rectum, 39, 1404, 10.1007/BF02054529 Ambroze, 1992, Familial adenomatous polyposis: results following ileal pouch-anal anastomosis and ileorectostomy, Dis Colon Rectum, 35, 12, 10.1007/BF02053332 Tytgat, 1995, Recurrent polyps in the ileoanal pouch or rectum in familial adenomatous polyposis, Eur J Cancer, 31, 1154, 10.1016/0959-8049(95)00154-B Iwama, 1994, Factors affecting the risk of rectal cancer following rectum-preserving surgery in patients with familial adenomatous polyposis, Dis Colon Rectum, 37, 1024, 10.1007/BF02049317 Phillips, 1996, Can we safely delay or avoid prophylactic colectomy in familial adenomatous polyposis?, Br J Surg, 83, 769, 10.1002/bjs.1800830613 Winde, 1995, Complete revision and prevention of rectal adenomas in colectomized patients with familial adenomatous polyposis by rectal low-dose nonesteroidal anti-inflammatory drug regimen in reversing adenomas exceeding 33 months, Dis Colon Rectum, 38, 813, 10.1007/BF02049838 Cruz-Correa, 2002, Long-term treatment with sulindac in familial adenomatous polyposis: a prospective cohort study, Gastroenterology, 122, 641, 10.1053/gast.2002.31890 Lynch, 1995, Rectal cancer after prolonged sulindac chemoprevention. A case report, Cancer, 75, 936, 10.1002/1097-0142(19950215)75:4<936::AID-CNCR2820750407>3.0.CO;2-Q Parks, 1980, Proctocolectomy with ileal reservoir and anal anastomosis, Br J Surg, 67, 533, 10.1002/bjs.1800670802 Johnston, 1996, Prospective controlled trial of duplicated (J) verus quadruplicated (W) pelvic reservoirs in restorative proctocolectomy for ulcerative colitis, Gut, 39, 242, 10.1136/gut.39.2.242 Fazio, 1995, Ileal pouch-anal anastomoses: complications and function in 1005 patients, Ann Surg, 222, 120, 10.1097/00000658-199508000-00003 Sánchez-Santos, 2002, Morbilidad y resultados funcionales a largo plazo de los reservorios ileoanales, Cir Esp, 72, 132, 10.1016/S0009-739X(02)72026-5 Contessini, 2004, Familial adenomatous polyposis. Surgical treatment: when and how, Tech Coloproctol, 8, 309S, 10.1007/s10151-004-0183-0 Strijbos, 2005, The ileo neo rectal anastomosis (INRA) in patients with familial adenomatous polyposis: clinical results at two years, Colorectal Dis, 7, 354, 10.1111/j.1463-1318.2005.00802.x Chapman, 2005, Ileal pouch-anal anastomosis. Does age at the time of surgery affect outcome?, Arch Surg, 140, 534, 10.1001/archsurg.140.6.534 Friedl, 2001, Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families, Gut, 48, 515, 10.1136/gut.48.4.515 Bertario, 2000, Genotype and phenotype factors as determinants for rectal stump cancer in patients with familial adenomatous polyposis. Hereditary colorectal tumours registry, Ann Surg, 231, 538, 10.1097/00000658-200004000-00013 Wallace, 1998, Upper gastrointestinal disease in patients with familial adenomatous polyposis, Br J Surg, 85, 742, 10.1046/j.1365-2168.1998.00776.x Kashiwagi, 2000, Gastroduodenal lesions in familial adenomatous polyposis, Surg Today, 30, 675, 10.1007/s005950070077 Steinbach, 2000, The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis, N Engl J Med, 342, 1946, 10.1056/NEJM200006293422603 Seow-Cohen, 1996, Prospective randomised study of sulindac versus calcium and calciferol for upper gastrointestinal polyps in familial adenomatous polyposis, Br J Surg, 83, 1763, 10.1002/bjs.1800831232 Phillips, 2002, A randomised, double blind, placebo controlled study of celecoxib, a selective cyclooxygenase 2 inhibitor, on duodenal polyposis in familial adenomatous polyposis, Gut, 50, 857, 10.1136/gut.50.6.857 Vasen, 1999, Guidelines for the surveillance and management of familial adenomatous polyposis (FAP): a world wide survey among 41 registries, Colorectal Dis, 1, 214, 10.1046/j.1463-1318.1999.00050.x Griffioen, 1998, Extracolonic manifestations of familial adenomatous polyposis: desmoid tumours, and upper gastrointestinal adenomas and carcinomas, Scand J Gastroenterol, 225, 85, 10.1080/003655298750027281 Arvanitis, 1990, Mortality in patients with familial adenomatous polyposis, Dis Colon Rectum, 33, 639, 10.1007/BF02150736 Parc, 2004, Long-term outcome of familial adenomatous polyposis patientes after restorative coloproctectomy, Ann Surg, 239, 378, 10.1097/01.sla.0000114216.90947.f6 Parés, 2006, Estado actual del seguimiento del tracto digestivo superior en pacientes con poliposis adenomatosa familiar, Gastroenterol Hepatol, 29, 15, 10.1157/13083247 Petrelli, 1996, Gastroduodenal polyps in familial adenomatous polyposis, Surg Endosc, 10, 1118, 10.1007/s004649900258 Soravia, 2000, Desmoid disease in patients with familial adenomatous polyposis, Dis Colon Rectum, 43, 363, 10.1007/BF02258303 Church, 2001, Sdards Task Force, American Society of Colon and Rectal Surgeons. Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer: supporting documentation, Dis Colon Rectum, 44, 1404, 10.1007/BF02234589 Church, 1995, A polyposis registry; how to set one up and make it work, Semin Colon Rectal Surg, 6, 48 Thompson, 2002, El registro de poliposis del Hospital de San Marcos de Londres, Gastroenterol Hepatol, 25, 267, 10.1016/S0210-5705(02)70257-4 Brunet, 2004, Cancer screening and genetic counseling, Rev Oncol, 6, 176, 10.1007/BF02710121