Principles of Diagnosis and Personalized Treatment of Hereditary Colorectal Cancer

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Abstract


The most frequent forms of hereditary colorectal cancer syndromes are Lynch syndrome and familial adenomatous polyposis (FAP). All the patients with suspicion to these syndromes need precise clinical and genetic diagnostics. Affected patients need personalized program of treatment because standard algorithm cannot be considered sufficiently effective. Identification of a pathogenic mutation in a patient indicates the need for DNA diagnostics in his close relatives and only in this case all the carriers of pathogenic germline mutations can be included in the high-risk group. Algorithms of clinical monitoring and operative treatment for mutation carriers were developed in different countries. However, different populations have their own genetic and clinical features. The aim of this work was to highlight the principles of diagnosis and personalized treatment of patients with hereditary colorectal cancer, taking into account international and Russian recommendations.


Alexey S. Tsukanov

State Scientific Centre of Coloproctology

Author for correspondence.
Email: tsukanov81@rambler.ru
ORCID iD: 0000-0001-8571-7462

Russian Federation

MD, PhD.

123423, Salyam Adil str. 2, Moscow.

SPIN-код: 4005-0998

Yury A. Shelygin

State Scientific Centre of Coloproctology

Email: info@gnck.ru
ORCID iD: 0000-0002-8480-9362

Russian Federation

Director, MD, PhD, professor.

123423, Salyam Adil str. 2, Moscow.

SPIN-код: 7989-8228

Sergey I. Achkasov

State Scientific Centre of Coloproctology

Email: ackasovy@mail.ru
ORCID iD: 0000-0001-9294-5447

Russian Federation

MD, PhD, professor.

123423, Salyam Adil str. 2, Moscow.

SPIN-код: 4005-0998

Sergey A. Frolov

State Scientific Centre of Coloproctology

Email: safrolov@mail.ru

Russian Federation

MD, PhD.

123423, Salyam Adil str. 2, Moscow.

SPIN-код: 9645-4800

Vladimir N. Kashnikov

State Scientific Centre of Coloproctology

Email: kashnikov-v@yandex.ru
ORCID iD: 0000-0002-5385-7898

Russian Federation

MD, PhD.

123423, Salyam Adil str. 2, Moscow.

SPIN-код: 5797-4230

Alexander M. Kuzminov

State Scientific Centre of Coloproctology

Email: 9249591@mail.ru
ORCID iD: 0000-0002-7544-4752

Russian Federation

MD, PhD, professor.

123423, Salyam Adil str. 2, Moscow.

SPIN-код: 4255-0201

Dmitry Yu. Pikunov

State Scientific Centre of Coloproctology

Email: pikunov.gnck@mail.ru
ORCID iD: 0000-0001-7040-6979

Russian Federation

MD, PhD.

123423, Salyam Adil str. 2, Moscow.

SPIN-код: 6995-3055

Vitaly P. Shubin

State Scientific Centre of Coloproctology

Email: shwit@mail.ru
ORCID iD: 0000-0002-3820-7651

Russian Federation

PhD.

123423, Salyam Adil str. 2, Moscow.

SPIN-код: 6308-6586

  1. Злокачественные новообразования в России в 2017 году (заболеваемость и смертность). / Под ред. Каприна А.Д., Старинского В.В., Петровой Г.В. ― М.: МНИОИ им. П.А. Герцена ― филиал ФГБУ «НМИЦ радиологии» Минздрава России; 2018. ― 250 с.
  2. Kastrinos F, Syngal S. Inherited colorectal cancer syndromes. Cancer J. 2011;17(6):405−415. doi: 10.1097/PPO.0b013e318237e408.
  3. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science. 1993;260(5109):816−819. doi: 10.1126/science.8484122.
  4. Fishel R, Lescoe MK, Rao MR, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell. 1993;75(5):1027−1038. doi: 10.1016/0092-8674(93)90546-3.
  5. Akiyama Y, Sato H, Yamada T, et al. Germ-line mutations of hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res. 1997;57(18):3920–3923.
  6. Peltomäki P. Update on Lynch syndrome genomics. Fam Cancer. 2016;15(3):385−393. doi: 10.1007/s10689-016-9882-8.
  7. Gruber S. New developments in Lynch syndrome (hereditary nonpolyposis colorectal cancer) and mismatch repair gene testing. Gastroenterology. 2006;130(2):577−587. doi: 10.1053/j.gastro.2006.01.031.
  8. Boland CR, Shike M. Report from the Jerusalem workshop on Lynch syndrome-hereditary nonpolyposis colorectal cancer. Gastroenterology. 2010;138(7):2197.e1−7. doi: 10.1053/j.gastro.2010.04.024.
  9. Giardiello FM, Allen JI, Axilbund JE, Boland CR. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the us multi-society task force on colorectal cancer. Dis Colon Rectum. 2014;57(8):1025−1048. doi: 10.1097/DCR.000000000000000.
  10. Botma A, Nagengast FM, Braem MG, et al. Body mass index increases risk of colorectal adenomas in men with Lynch syndrome: the GEOLynch cohort study. J Clin Oncol. 2010;28(28):4346−4353. doi: 10.1200/JCO.2010.28.0453.
  11. Winkels RM, Botma A, Van Duijnhoven FJ, et al. Smoking increases the risk for colorectal adenomas in patients with Lynch syndrome. Gastroenterology. 2012;142(2):241−247. doi: 10.1053/j.gastro.2011.10.033.
  12. ClinicalTrials.gov [Internet]. Finding the best dose of aspirin to prevent Lynch syndrome cancers (CaPP3 Israel) [cited 2016 August 25]. Available from: https://clinicaltrials.gov/ct2/show/NCT02497820.
  13. Nishisho I, Nakamura Y, Miyoshi Y, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science. 1991;253(5020):665−669. doi: 10.1126/science.1651563.
  14. Rivera B, González S, Sánchez-Tomé E, et al. Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. Ann Oncol. 2011;22(4):903−909. doi: 10.1093/annonc/mdq465.
  15. Näthke I. The adenomatous polyposis coli protein: the achilles heel of the gut epithelium. Annu Rev Cell Dev Biol. 2004;20:337−366. doi: 10.1146/annurev.cellbio.20.012103.094541.
  16. Friedl W, Caspari R, Sengteller M, et al. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut. 2001;48(4):515−521. doi: 10.1136/gut.48.4.515.
  17. Nieuwenhuis M, Vasen H. Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature. Crit Rev Oncol Hematol. 2007;61(2):153−161. doi: 10.1016/j.critrevonc.2006.07.004.
  18. Цуканов А.С. Стратегия комплексного молекулярно-генетического изучения наследственных форм колоректального рака у российских пациентов: Автореф. дис. … докт. мед. наук. ― М.: ФГБУ «МГНЦ»; 2017. — 48 с. Доступно по: http://www.med-gen.ru/docs/a-r_Tsukanov%20A.pdf. Ссылка активна на 14.04.2019.
  19. Цуканов А.С., Шелыгин Ю.А., Семенов Д.А., и др. Cиндром Линча. Cовременное состояние проблемы // Медицинская генетика. ― 2017. ― Т.16. ― №2 ― С. 11−18.
  20. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology. 1999;116(6):1453−1456. doi: 10.1016/s0016-5085(99)70510-x.
  21. Balmaña J, Balaguer F, Castellví-Bel S, et al. Comparison of predictive models, clinical criteria and molecular tumor screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients. J Med Genet. 2008;45(9):557−563. doi: 10.1136/jmg.2008.059311.
  22. Green RC, Parfrey PS, Woods MO, Younghusband HB. Prediction of Lynch syndrome in consecutive patients with colorectal cancer. J Natl Cancer Inst. 2009;101(5):331−340. doi: 10.1093/jnci/djn499.
  23. Vasen HF, Möslein G, Alonso A, et al. Guidelines for the clinical management of Lynch syndrome (hereditary nonpolyposis cancer). J Med Genet. 2007;44(6):353−362. doi: 10.1136/jmg.2007.048991.
  24. Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005;352(18):1851−1860. doi: 10.1056/NEJMoa043146.
  25. Piñol V, Castells A, Andreu M, et al. Gastrointestinal Oncology Group of the Spanish Gastroenterology Association, accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA. 2005;293(16):1986−1994. doi: 10.1001/jama.293.16.1986.
  26. Пикунов Д.Ю., Тобоева М.Х., Цуканов А.С. Роль регистров наследственных форм колоректального рака в выявлении групп риска и улучшении результатов лечения // Альманах клинической медицины. ― 2018. ― Т.46. ― №1 ― С. 16−22. doi: 10.18786/2072-0505-2018-46-1-16-22.
  27. Järvinen HJ, Renkonen-Sinisalo L, Aktán-Collán K, et al. Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members. J Clin Oncol. 2009;27(28):4793−4797. doi: 10.1200/JCO.2009.23.7784.
  28. Stuckless S, Green J, Dawson L, et al. Impact of gynecological screening in Lynch syndrome carriers with an MSH2 mutation. Clin Genet. 2013;83(4):359−364. doi: 10.1111/j.1399-0004.2012.01929.x.
  29. Vasen HF, Blanco I, Aktan-Collan K, et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut. 2013;62(6):812−823. doi: 10.1136/gutjnl-2012-304356.
  30. Van der Post RS, Kiemeney LA, Ligtenberg MJ, et al. Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. J Med Genet. 2010;47(7):464−470. doi: 10.1136/jmg.2010.076992.
  31. Topalian SL, Sznol M, McDermott DF, et al. Survival, durable tumor remission, and long-term safety in patients with advanced melanoma receiving nivolumab. J Clin Oncol. 2014;32(10):1020−1030. doi: 10.1200/JCO.2013.53.0105.
  32. Le DT, Uram JN, Wang H, et al. PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med. 2015;372(26):2509−2520. doi: 10.1056/NEJMoa1500596.
  33. Gibbons DC, Sinha A, Phillips RK, Clark SK. Colorectal cancer: no longer the issue in familial adenomatous polyposis? Fam Cancer. 2011;10(1):11−20. doi: 10.1007/s10689-010-9394-x.
  34. Vasen HF, Möslein G, Alonso A, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008;57(5):704−713. doi: 10.1136/gut.2007.136127.
  35. Шелыгин Ю.А., Чернышов С.В., Пересада И.В., и др. Первый опыт трансанальных эндоскопических операций // Колопроктология. ― 2012. ― №2 ― С. 34−39.
  36. Чернышов С.В., Орлова Л.П., Жданкина С.Н., и др. Высокая частота скрытой малигнизации ворсинчатых опухолей как фактор выбора трансанальных эндоскопических операций // Колопроктология. ― 2013. ― №2 ― С. 3−8.
  37. Smith JC, Schäffer MW, Ballard BR, et al. Adenocarcinomas after prophylactic surgery for familial adenomatous polyposis. J Cancer Ther. 2013;4(1):260−270. doi: 10.4236/jct.2013.41033.
  38. Кайзер А.М. Колоректальная хирургия. ― М.: Бином; 2011. ― 737 с.
  39. Browning SM, Nivatvongs S. Intraoperative abandonment of ileal pouch to anal anastomosis ― the Mayo clinic experience. J Am Coll Surg. 1998;186(4):441−445. doi: 10.1016/s1072-7515(98)00056-8.
  40. Kartheuser A, Stangherlin P, Brandt D, et al. Restorative proctocolectomy and ileal pouch ― anal anastomosis for familial adenomatous polyposis revisited. Fam Cancer. 2006;5(3):241−260. doi: 10.1007/s10689-005-5672-4.
  41. Wallace MH, Phillips RK. Preventative strategies for periampullary tumours in FAP. Ann Oncol. 1999;10 Suppl 4:201−203. doi: 10.1093/annonc/10.suppl_4.s201.
  42. Bülow S, Björk J, Christensen IJ, et al. Duodenal adenomatosis in familial adenomatous polyposis. Gut. 2004;53(3):381−386. doi: 10.1136/gut.2003.027771.
  43. Spigelman AD, Talbot IC, Williams CB, et al. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet. 1989;334(8666):783−785. doi: 10.1016/s0140-6736(89)90840-4.
  44. 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):636−641. doi: 10.1136/gut.50.5.636.
  45. Sturt NJ, Gallagher MC, Bassett P, et al. Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation. Gut. 2004;53(12):1832−1836. doi: 10.1136/gut.2004.042705.
  46. Sturt NJ, Clark SK. Current ideas in desmoid tumours. Fam Cancer. 2006;5(3):275−285. doi: 10.1007/s10689-005-5675-1.
  47. Herraiz M, Barbesino G, Faquin W, et al. Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations. Clin Gastroenterol Hepatol. 2007;5(3):367−373. doi: 10.1016/j.cgh.2006.10.019.
  48. Cetta F, Montalto G, Gori M, et al. Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study. J Clin Endocrinol Metab. 2000;85(1):286−292. doi: 10.1210/jcem.85.1.6254.
  49. Giardiello FM, Petersen GM, Brensinger JD, et al. Hepatoblastoma and APC gene mutation in familial adenomatous polyposis. Gut. 1996;39(6):867−869.
  50. Syngl S, Brand R, Church J. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015;110(2):223−262. doi: 10.1038/ajg.2014.435.
  51. Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol. 2006;101(2):385−398. doi: 10.1111/j.1572-0241.2006.00375.x.
  52. Brevet M, Brehant O, Dumont F, et al. Polypose adénomateuse vésiculaire et syndrome de Gardner: une association rare. Gastroenterol Clin Biol. 2007;31(4):425−427. doi: 10.1016/s0399-8320(07)89404-8.

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