Herediter Adenomatöz Polipozis Sendromlarında Profilaktik Cerrahi: Ne Zaman ve Nasıl? – Güncel Yaklaşımlar ve Literatür Derlemesi

Year 2020, , 528 - 535, 15.09.2020

Emrah Akın , Furkan Kucuk Fatih Altıntoprak

https://doi.org/10.31832/smj.734079

Abstract

Herediter adenomatöz polipozis sendromları; Familyal Adenomatöz Polipozis (FAP), Atenüe Familyal Adenomatöz Polipozis (AFAP), MUTHY ilişkili Adenomatöz Polipozis (MAP) ve Polimeraz Proofreading Sendrom (PPS) olarak tanımlanan farklı hastalıkları bünyesinde barındırmaktadır. Hastalar fenotip özellikleri, genotip ilişkili presentasyonları, yaş, cerrahinin zamanlaması, kapsamı ve tekniği gibi çeşitli faktörlerin bir arada değerlendirildiği profilaktik cerrahi için adaydır. Günümüzde klinik, moleküler ve teknik ilerlemeler daha az invaziz ve riski uyarlanmış cerrahi ile birlikte bireyselleştirilmiş tedavi seçeneklerini sunmaktadır. Malignite gelişmeden önce hedef organın ortadan kaldırılması olarak tanımlanan proflaktik cerrahi seçeneği bu sendromlarda gündeme gelmektedir. Bu yazıda; tanımlanan sendromlardaki genetik altyapı ve klinik prezentasyon farkları gözden geçirilip, proflaktik cerrahinin zamanlaması ve seçenekleri güncel literatür verileri ışığında derlenmiştir.

Keywords

FAP, profilaktik cerrahi, herediter polipozis sendromlar

References

• 1.Groden J, Thliveris A, Samowitz W, Carlson m, Gelbert L, Albertsen H, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66;3:589–600. PMID:1651174 2. Bussey HJR. Familial polyposis coli. Family studies, histopathology, differential diagnosis and results of treatment. Baltimore: The Johns Hopkins University Press, 1975. 3.Smith JC, Schaffer MW, Ballard BR, Smoot DT, Herline AJ, Adunyah SE, et al. Adenocarcinomas after prophylactic surgery for familial adenomatous polyposis. J Cancer Ther 2013;4;1;260-70. Doi:10.4236/jct.2013.41033 4.Vogelsang HE. Prophylactic surgery and extended oncological radicality in gastric and colorectal hereditary cancer syndromes. Visc Med 2019;35;4:231-9. doi:10.1159/000501919. Epub 2019 Jul 16 5. Talbot IC, Burt R, Järvinen H, et al. Familial adenomatous polyposis. In:Hamilton SR, Aaltonen LA. Pathology and genetics of tumours of the digestive system. Lyon: IARC Press, 2000:120–5. 6.Syngal S, Brand RE, Church MJ, Giardello FM, Hampel HI, Burt RW. ACG guidelines: Genetic testing and management of hereditary gastroistestinal cancer syndromes. Am J Gastroenterol 2015;110:223-62. doi:10.1038/ajg.2014.435 7. Vasen HF, Van der Luijt RB, Slors JF, Buskens E, de Ruiter P, Baeten CG, et al. Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis. Lancet. 1996;348;9025:433–5. 8.Marabelli M, Molinaro V, Abou Khouzam R, Berrino E, Panero M, Balsamo A, et al. Colorectal Adenomatous Polyposis: Heterogeneity of susceptibility gene mutations and phenotypes in a cohort of Italian patients. Genet Test Mol Biomarkers 2016;20;12:777–85. 9.Newton KF, Mallinson EK, Bowen J, Lalloo F, Clancy T, Hill J, et al. Genotype-phenotype correlation in colorectal polyposis. Clin Gen et 2012;81;6:521–31. 10.Nieuwenhuis MH, Lefevre JH, Bülow S, Järvinen H, Bertario L, Kernéis S, et al. Family history, surgery and APC mutation are risk factors for desmoid tumors in familial ad enomatous polyposis: an international cohort study. Dis Colon Rectum 2011;54;10:1229–34. 11.Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Böker T, et al. Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet. 1995;4;3:337–40. 12.Heiskanen I, Järvinen HJ. Fate of the rectal stump after colectomy and ileorectal anastomosis for familial adenomatous polyposis. Int J Colorectal Dis 1997;12:9–13. 13.Bulow C, Vasen HFA, Järvinen H, Björk J, Bisgaard ML, Bülow S. Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis. Gastroenterology 2000;119;6:1454–60. PMID:11113066 14.Church J, Simmang C: Practice parameters for the treatment of patients with dominantly inher- ited colorectal cancer (familial adenomatous polyp- osis and hereditary nonpolyposis colorectal cancer). Dis Colon Rectum 2003;46:1001-12. 15.Hes FJ, Nielsen M, Bik EC, Konvalinka D, Wijnen JT, Bakker E, et al. Somatic APC mosaicism: an underestimated cause of polyposis coli. Gut 2008;57;1: 71–6. Doi:10.1136/gut.2006.117796 16.Wu JS, Paul P, McGannon EA, Church J. APC genotype, polyp number, and surgical options in famil- ial adenomatous polyposis. Ann Surg 1998;1;227:57-62. Doi:10.1097/00000658-199801000-00009 17.SinhaA, TekkisPP, NealeKF, PhillipsRK, ClarkSK. Risk factors predicting intra-abdominal desmoids in familial adenomatous polyposis: a single centre experience. Tech Coloproctol 2010;14:141–46. 18.Burt RW, Leppert MF, Slattery ML, Samowitz WS, Spirid LN, KerberRA, et al. Genetic testing and phenotype in a large kindred with attenued familial adenomatous polyposis. Gastroenterol 2004;127:444-61. Doi:10.1053/j.gastro.2004.05.003 19.Saurin JC, Napoleon B, Gay G, Ponchon T, Arpurt JP, Boustiere C, et al. Endoscopic management of patients with familial adenomatous polyposis (FAP) following a colectomy. Endoscopy 2005;37:499–501. PMID:15844037. 20.Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003;27;348:791-9. PMID:12606733 21.Kim DW, Kim IJ, Kang HC, Jang SG, Kim Ki, Yoon HJ, et al. Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas. Int J Colorectal Dis 2007; 22:1173. 22.Miyaki M, Iijima T, Yamaguchi T,Hishima T, Tamura K, Utsunomiya, et al. Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas. Mutat Res 2005;578;1::430-3. PMID:15890374 23.Gómez-Fernández N, Castellví-Bel S, Fernández-Rozadilla C, Balaguer F, Munoz J, Madrigal L, et al. Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? BMC Med Genet 2009;10:57. Doi:10.1186/1471-2350-10-57. 24.Grover S, Kastrinos F, Steyerberg EW, Cook EF, Dewanwala A, Burbidge LA, et al. Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA 2012;308;5:485-92. Doi:10.1001/jama.2012.8780. 25.Zhang Y, Newcomb PA, Egan KM, Titus-Emstoff L, Chanock S, Welch R, et al. Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer. Cancer Epidemiol Biomarkers Prev 2006;15;2:353-8. PMID:16492928. 26.Nielsen M, Hes FJ, Vasen HF, van den Hout WB. Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations. BMC Med Genet 2007;8:42. 27.Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 2012;45;2:136–44. Doi:10.1038/ng.2503 28.Valle L, Hernández-Illán E, Bellido F, Alza G, Castillejo A, Castillejo MI, et al. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. Hum Mol Genet 2014;23;13:3506–12. Doi:10.1093/hmg/ddu058. 29.White I, Jenkins JT, Coomber R, Clark SK, Phillips RK, Kennedy RH. Outcomes of laparoscopic and open restorative proctocolectomy. Br J Surg 2014;101;9:1160-5. Doi:10.1002/bjs.9535 30.Bertario L, Presciuttini S, Sala P, Rossetti C, Pietrolusti M. Causes of death and postsurgical survival in familial adenomatous polyposis: results from the Italian registry of familial polyposis writing committee. Semin Surg Oncol 1994;10;3:225–34. Doi:10.10002/ssu.2980100311 31.Clark SK, Neale KF, Landgrebe JC, Phillips RK. Desmoid tumours complicating familial adenomatous polyposis. Br J Surg 1999;86;9:1185–9. PMID:10504375 32.Sinha A, Tekkis PP, Gibbons C, Philips RK, Clark SK. Risk factors predicting desmoid occurence in patients with familial adenomatous polyposis:a meta-analysis.Col Dis 2011;13;1222-29. Doi:10.1111/j.1463-1318.2010.02345.x 33.Guillem JG, Wood WC, Moley JF, Berchuck A, karlan BY, Mutch DG, et al. ASCO/SSO review of current role of risk reducing surgery in common hereditary cancer syndromes. J Clin Oncol 2006;28;28:4642-60. PMID:17008706 34.Debinski HS, Love S, Spigelman AD, Phillips RK: Colorectal polyp counts and cancer risk in familial adenomatous polyposis. Gastroenterology 1996;110;4:1028-3. PMID:8612989 35.Vasen HF, van der Luijt RB, Slors JF, Buskens E, de Ruiter P, Baeten CG, et al: Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis. Lancet 1996;348;9025:433-35. Doi:10.1016/s0140-6736(96)01340-2 36.Bertario L, Russo A, Radice P, Varesco L, Eboli, Spinelli P, et al: Genotype and phenotype factors as determinants for rectal stump cancer in patients with familial adenomatous polyposis: Hereditary Colorectal Tumors Registry. Ann Surg 2000;231;4:538-43. Doi:10.1097/00000658-200004000-0013 37.Ambroze WL Jr, Dozois RR, Pemberton JH, Beart RW Jr, Ilstrup DM. Familial adenomatous polyposis: results following ileal pouch-anal anastomosis and ileorectostomy. Dis Colon Rectum 1992;35:12–5. PubMed: 1310269 38.Giardiello FM, Brensinger JD, Petersen GM: AGA technical review on hereditary colorectal can- cer and genetic testing. Gastroenterology 2001;121:198- 213. 39.Geisler DP, Condon ET, Remzi FH. Single incision laparoscopic total proctocolectomy with ileopouch anal anastomosis. Colorectal Dis 2010;12;9:941-3. Doi:10.11117j.1463-1318.2009.02115.x. PMID;19895601 40.van Duijvendijk P, Slors JF, Taat CW, Ooserveld P, Vasen HF: Functional outcome after colectomy and ileorectal anastomosis compared with proctocolectomy and ileal pouch-anal anastomosis in familial adenoma- tous polyposis. Ann Surg 1999;230;5:648-654. PMID:10561088 41.Madden MV, Neale KF, Nicholls RJ, Langrebe JC, Chapman PD, Buessey, et al: Comparison of morbidity and function after colec- tomy with ileorectal anastomosis or restorative proctocolectomy for familial adenomatous polypo- sis. Br J Surg 1991;78;7:789-92. BMID:1651799 42.Soravia C, Klein L, Berk T, O’Connor BI, Cohen Z, McLeod RS, et al: Comparison of ileal pouch-anal anastomosis and ileorectal anas- tomosis in patients with familial adenomatous polyposis. Dis Colon Rectum 1999;42;8:1028-33, 1999 43.Ardoino I, Signoroni S, Malvicini E, Ricci MT, Biganzoli EM, Bertario L, et al. Long-term survival between total colectomy versus proctocolectomy in patients with FAP:a registry-based, observational cohort study. Tumori 2020;106;2;139-48. Doi:10.1177/0300891619868019. 44.Doss F, Morris AM, Wilson AR, Baxter NN. Life after surgery:surgeon assessments of quality of life among patients with familial adenomatous polyposis. Dis colon rectum 2018;61;10:1217-22. Doi:10.1097/DCR.000000000001146. 45.Soravia C, Berk T, McLeod RS, et al: Des- moid disease in patients with familial adenomatous polyposis. Dis Colon Rectum 43:363-369, 2000 46.Penna C, Tiret E, Parc R, et al: Operation and abdominal desmoid tumors in familial adenomatous polyposis. Surg Gynecol Obstet 177:263-268, 1993 47.Bertario L, Russo A, Sala P, et al: Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis. J Clin Oncol 21:1698-1707, 2003 48.BertarioL, RussoA, SalaP, EboliM, GiarolaM, D’amicoF, et al.; Hereditary Colorectal Tumours Registry. Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. Int J Cancer 2001; 95: 102–107. 49.SinhaA.Characterisation of desmoids in familial adenomatous polyposis Thesis. Imperial College London 2010. https://spiral.imperial.ac.uk:8443/bitstream/10044/1/6359/ 50.ChittleboroughTJ,WarrierSK,HeriotAG,KaladyM, Church J. Dispelling misconceptions in the management of familial adenomatous polyposis. ANZ J Surg 2017;87: 441–445. 51.Church JM: Mucosal ischemia caused by desmoid tumors in patients with familial adenoma- tous polyposis: Report of four cases. Dis Colon Rectum 1998;41:661-3. 52.Church JM, McGannon E, Hull-Boiner S, Sivak MV, Van Stolk R, Jagelman DG, et al: Gastroduodenal polyps in patients with familial adenomatous polyposis. Dis Colon Rectum 1992;35;12:1170-3. 53.Wallace MH, Phillips RK: Upper gastrointestinal disease in patients with familial adenomatous polyposis. Br J Surg 1998;85:742-50. 54.Heiskanen I, Jarvinen HJ: Occurrence of desmoid tumours in familial adenomatous polyposis and results of treatment. Int J Colorectal Dis 1996;11:157-62. 55.Spigelman AD, Williams CB, Talbot IC, Domizio P, Phillips RK. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 1989;2;8666:783–5. 56.Groves CJ, Saunders BP, Spigelman AD, Phillips RK. Duodenal cancer in patients with familial adenomatous polyposis (FAP): results of a 10 year prospective study. Gut 2002;50;5:636–41. 57.Saurin JC, Gutknecht C, Napoleon B, Chavaillon A, Ecochard R, Scozec JY, et al. Surveillance of duodenal adenomas in familial adenomatous polyposis reveals high cumulative risk of advanced disease. J Clin Oncol 2004;22;3:493–98. Doi:10.1200/JCO.2004.06.028