Hereditary colorectal cancer syndromes

Document Type: Review Article

Authors

Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City 14000.

Abstract

Context: In recent decades there has been an increase in hereditary colorectal cancer cases in people under 50 years of age. Several studies revealed similar pathologies with both molecular and clinical variations about hereditary colorectal neoplasms. We subdivided those new pathologies derived from the two groups in which hereditary colorectal cancer is classified: polyposis syndromes and non polyposis syndromes.
Evidence Acquisition: The scientific search was done up to July – October, 2020. The search was limited to predefined keywords. The inclusion criteria were articles relevant to the search criteria (keywords). After, Rivera F. and Mendoza Y. looked for the associated articles, removed duplicates, and selected relevant information for our review manuscript. We included 80 scientific articles that met the established criteria.
Results: Syndromes were divided according to the presence of polyps or not and their histological type and the classification or subclassification. Also we explain the type of inheritance, the affected genes, the clinical manifestations, the mean age of presentation of the disease and the polyps histology in case the disease has it. So, in this article we facilitated the identification of each syndrome for the reader.
Conclusions: Despite representing a low etiology of colorectal cancer, cases of hereditary colorectal cancer show an increased trend over the last years.
The development of genetic research has led to the establishment, modification and redefinition of molecular and clinical criteria associated with this pathology. However, there is a small group of patients that don't have molecular or clinical criteria belonging to any classification.
Also the limited access or high cost associated with molecular analysis complicates the study of these pathologies and therefore lead to insufficient diagnosis and general treatment.
For these reasons, there are still new genetic branches on hereditary colorectal cancer to investigate and thus establish comprehensive treatments for patients.

Keywords


  1. Ferlay J, Soerjomataram I, Ervik M, et al. GLOBOCAN 2018, Cancer incidence and mortality worldwide: IARC Cancer. Lyon, Francia: International Agency for Research on Cancer. 2018; http://globocan.iarc.fr. Access: July 24th, 2020.
  2. Castells A. Hereditary forms of colorectal cancer. Gastroenterol Hepatol. 2016; 39(1): 62 - 67.
  3. Wells, K., & Wise, P. E. Hereditary Colorectal Cancer Syndromes. Surg Clin North Am. 2017; 97(3): 605 – 625.
  4. Pares D, Pera M, Gonzalez S, Pascual M, Blanco I. Familial adenomatous polyposis. Gastroenterol Hepatol. 29(10): 625 - 635.
  5. Trimbath J, Giardiello F. Review article: genetic testing and counseling for hereditary colorectal cancer. Aliment Pharmacol Ther. 2002; 16(11): 1843 – 1857.
  6. Rossi B, Vaccaro C,  Kronberg U. Hereditary syndromes that predispose to colorectal cancer. Rev. Med. Clin. Condes. 2017; 28(4): 617 - 626.
  7. Brosens L, Keller J, Offerhaus, et al. Prevention and management of duodenal polyps in familial adenomatous polyposis. Gut. 2005; 54(7): 1034 – 1043.
  8. Spigelman A, Williams C, Talbot I, et al. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet. 1989; 2(8666): 783 – 785.
  9. Groves J, Saunders B, Spigelman A, et al. Duodenal cancer in patients with familial adenomatous polyposis (FAP): results of a 10 year prospective  study. Gut. 2002; 50(5): 636 – 641.
  10. Bulow S, Bjork J, Christensen I, et al. Duodenal adenomatosis in familial adenomatous polyposis. Gut. 2004; 53(3): 381 – 386.
  11. Saurin J, Gutknecht C, Napoleon B, et al. Surveillance of duodenal adenomas in familial adenomatous polyposis reveals high cumulative risk of advanced disease. J Clin Oncol. 2004; 22(3): 493 – 498.
  12. Charifa A, Jamil R, Zhang X. Gardner Syndrome. Treasure Island, Florida: StatPearls Publishing. 2019; https://www.ncbi.nlm.nih.gov/books/NBK482342/. Access: October 25th, 2020.
  13. Saleh B, Abdullah A, Yaser T, et al. Turcot's syndrome presenting as an acute abdomen. Journal of Pediatric Surgery Case Reports. 2019; 40: 17 – 19.
  14. Aguirre E, Alés J, Andrés R, et al. Sociedad Española de Oncología Médica. Cáncer Hereditario. Instituto Roche. 2019. https://seom.org/images/Libro_Cancer_hereditario_2019.pdf. Access: July 24th, 2020.
  15. Moreira L, Castells A, Castelvi S. Poliposis y poliposis colorrectales. In Montoro MA, García Pagán JC, editores. Gastroenterología y Hepatología. Problemas comunes en la práctica clínica. 2da ed. Madrid: Jarpyo. 2012; 607 - 616.
  16. Stoffel E, Arbor A, Mangu P, et al. Hereditary Colorectal Cancer Syndromes: American Society of Clinical Oncology Clinical Practice Guideline Endorsement of the Familial Risk–Colorectal Cancer: European Society for Medical Oncology Clinical Practice Guideline. J Clin Oncol. 2015; 33(2): 209 - 217.
  17. Huiying M, Lodewijk A, Brosens A, et al. Pathology and genetics of hereditary colorectal cancer. Pathology. 2018; 50(1): 49 - 59.
  18. Rodríguez E, Beñas B, Mesonero F, Parejo S, Albillos A. Colorectal cancer. Medicine. 2016; 12(6): 297 – 307.
  19. Garre, P. Poliposis Adenomatosa Familiar. Ed Cont Lab Clín. 2015; 21(1): 91 – 102.
  20. Infante A, Velez W, Argüelles C, Denis R. Cowden Syndrome. Rev Cuba Endoc. 2018; 29(2): 1 - 10.
  21. Hussain T, Church J. Juvenile polyposis syndrome. Clin Case Rep. 2020; 8(1): 92–95.
  22. Yi H, Chin W, Szu C, et al. Juvenile polyposis syndrome, An unusual case report of anemia and gastrointestinal bleeding in young infants. Medicine. 2016; 95(37): 1 - 5.
  23. Fernández P, Paredes J, Rizzi A, Vera A, Soskin A. Childhood familial juvenile polyposis. Cir. Parag. 2019; 43(1): 41 - 43.
  24. Latchford A, Neale K, Phillips R, Clark S. Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term out- come. Dis Colon Rectum. 2012; 55(10): 1038 - 1043.
  25. Syngal S, Brand R, Church J, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015; 110(2): 223 - 262.
  26. Larsen J, Howe J. Juvenile Polyposis Syndrome. Seattle, WA: University of Washington. 1993; https://www.ncbi.nlm.nih.gov/books/NBK1469/#_NBK1469_pubdet_. Access: October 25th, 2020.
  27. Dove I, Sasieni P, Adams J, et al. Prevention of colorectal cancer by colonoscopic surveillance in individuals with a family history of colorectal cancer: 16 year, prospective, follow-up study. BMJ. 2005; 331(7524): 1047.
  28. Provenzale D, Gupta S, Ahnen D, et al. Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2016; 14(8): 1010 - 1030.
  29. Grace M, López A. Caso clínico Síndrome de Peutz Jeghers. Gac Med Bol. 2010. 33(2): 59 - 63.
  30. Beggs A, Latchford A, Vasen H, et al. Peutz - Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010; 59(7): 975 - 986.
  31. Giardiello F, Trimbath J. Peutz Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol. 2006; 4: 408 - 415.
  32. Zuluaga A, Loreto J, Sastoque G. et al. Gastrointestinal Hamartomatous Polyposis with Intestinal Intususception in a Patient with Peutz-Jeghers Síndrome: A Case Report. Rev. Colomb. Radiol. 2017; 28(1): 4626 - 4649.
  33. Jass J, Williams C, Bussey H, et al. Juvenile polyposis a precancerous condition. Histopathology. 1988; 13(6): 619 - 630.
  34. Utsunomiya J, Gocho H, Miyanaga T, et al. Peutze Jeghers syndrome: its natural course and management. Johns Hopkins Med J. 1975; 136(2): 71 - 82.
  35. Vogel T, Schumacher V, Saleh A, et al. Extraintestinal polyps in Peutze Jeghers syndrome: presentation of four cases and review of the literature. Int J Colorectal Dis. 2000; 15(2): 118 - 123.
  36. Aaltonen L. Hereditary intestinal cancer. Semin Cancer Biol. 2000; 10(4): 289 - 298.
  37. Aretz S, Stienen D, Uhlhaas S, et al. High proportion of large genomic STK11 deletions in Peutze Jeghers syndrome. Hum Mutat. 2005; 26(6): 513 - 519.
  38. Amos C, Bali D, Thiel T, et al. Fine mapping of a genetic locus for Peutze Jeghers syndrome on chromosome 19p. Cancer Res. 1997; 57(17): 3653 - 3656.
  39. Mehenni H, Blouin J, Radhakrishna U, et al. Peutze Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. Am J Hum Genet. 1997; 61(6): 1327 - 1334.
  40. Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutze Jeghers syndrome. Nature. 1998; 391(6663): 184 - 187.
  41. Torres E, Arrieta L, Valle S, Quintana C. Síndrome Peutz Jeghers. A propósito de un caso.  Rev. Pediátrica Elizalde. 2015; 6(1-2): 1 - 54.
  42. Zhou X, Hampel H, Thiele H, et al. Association of germline mutation in the PTEN tumour suppressor gene and a sub- set of Proteus and Proteus-like syndromes. Lancet. 2001; 358(9277): 210 – 211.
  43. Gorlin R, Cohen M, Condon L, et al. Bannayan- Riley-Ruvalcaba syndrome. Am J Hum Genet. 1992; 44 (3): 307 – 314.
  44. Zheng Z, Liaw D, Caron S, et al. Mutation spectrum and genotype- phenotype analyses in Cowden disease and Bannayan- Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet. 1992; 7(3): 507 – 515.
  45. Marsh D, Kum J, Lunetta K, et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet. 1999; 8(8): 1461 – 1472.
  46. Nelen M, Padberg G, Peeters E, et al. Localization of the gene for Cowden disease to 10q22-23. Nat Genet. 1996; 13(1): 114 – 116.
  47. Nelen M, Van Staveren C, Peeters E, et al. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet. 1997; 6(8): 1383 – 1387.
  48. Liaw D, Marsh D, Li J, et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet. 1997; 16(1): 64 – 67.
  49. Rodríguez U, Medina U. Alteraciones cutáneas en las poliposis intestinales. Rev Hosp Jua Mex. 2015; 82(2): 114 -117.
  50. Snyder C, Hampel H. Hereditary Colorectal Cancer Syndromes. Semin Oncol Nurs. 2019; 35(1): 58 - 78.
  51. Marsh D, Caron S, Dahia P, et al. Germline PTEN mutations in Cowden syndrome-like families. J Med Genet. 1998; 35(11): 881 – 885.
  52. Salem O, Steck W. Cowden’s disease (multiple hamartoma and neoplasia syndrome). A case report and re- view of the English literature. J Am Acad Dermatol. 1983; 8(5): 686 – 696.
  53. Starink T, Van der Veen J, Arwert F, et al. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet. 1986; 29(3): 222 – 233.
  54. Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet. 2000; 37(11): 828 – 830.
  55. NCCN 2009 The NCCN genetic familial high-risk assessment: breast and ovarian (version 2009). Clinical Practice Guidelines in Oncology. www.nccn.org Access: October 24th, 2020.
  56. Rebbeca N, Ganapathi S, Comeras I, et al. Frequency of Germline PTEN Mutations in Differentiated Thyroid Center. Thyroid. 2011; 21(5): 505 – 510.
  57. García J. Síndrome de Cowden. GT-CSGP. 2012. 1 - 17.
  58. Mester J, Eng C. Cowden syndrome: recognizing and managing a not so rare hereditary cancer syndrome. J Surg Oncol. 2015; 111(1): 125 – 130.
  59. Yehia L, Ni Y, Sesock K, et al. Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. PloS Genet. 2018; 14(4): 1 – 17.
  60. Genetics home reference. Bannayan-Riley-Ruvalcaba syndrome. Lister Hill National Center for Biomedical Communications. 2020; https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome. Access: July 25th, 2020.
  61. Lee S, Ryoo E, Tchah H. Bannayan Riley Ruvalcaba syndrome in patient with aPTEN mutation identified by Chromosomal Microarray Analysis: a case report. Pediatr Gastroenterol Hepatol Nutr. 2017; 20(1): 65 - 70. 
  62. Lieberman S, Walsh T, Schechter M, et. al. Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance. Gastroenterology. 2017; 152(8): 1876 – 1880.
  63. Valle L, de Voer R, Goldberg Y, et al. Update on genetic predisposition to colorectal cancer and polyposis. Mol Aspects Med. 2019; 69: 10 - 26.
  64. Provenzale D, Gupta S, Ahnen D, et al. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 3.2017. J Natl Compr Canc Netw. 2017; 15(12): 1465 - 1475.
  65. Balaguera F, Cuatrecasas M. Poliposis colorrectales poco frecuentes. Gastroenterol Hepatol Contin. 2012; 9(2): 68 - 72.
  66. Bleijenberg A, Jspeert J, Van Herwaarden Y, et al. Personalised surveillance for serrated polyposis syndrome: results from a prospective 5-year international cohort study. Gut. 2020. 69(1): 112–121.
  67. Medina H, Pimienta A, Pastor F, Ramírez M. Simultaneous primary cancer: Atypical Lynch syndrome. Rev Gastroenterol Mex. 2015; 80(2): 169 - 170.
  68. Giardiello F, Allen J, Axilbund J, et al. Guidelines on genetic evaluation and management of Lynch syndrome: A consensus statement by the US Multi-Society Task Force on colorectal cancer. Gastroenterology. 2014; 147(2): 502-526.
  69. Castro M, Barletta C. Síndrome de Lynch: aspectos genéticos, clínicos y diagnósticos. Rev. gastroenterol. Perú. 2018; 38(3): 265-279.
  70. Vasen H, Mecklin J, Khan P, et al. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991; 34(5): 424 - 425.
  71. Boland C, Thibodeau S, Hamilton S, et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 1998; 58(22): 5248 - 5257.
  72. Vasen H, Watson P, Mecklin J, et al. 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.
  73. Laghi L, Bianchi P, Roncalli M, et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004; 96(18): 1402 – 1403.
  74. Kohlmann W, Gruber S. Lynch Syndrome. Seattle, WA: University of Washington. 2004; https://www.ncbi.nlm.nih.gov/books/NBK1211/. Access: October 26th, 2020.
  75. Bandres F, Urioste M. Planteamientos básicos del cáncer hereditario: principales síndromes. Madrid: Fundación Tejerina/Instituto Roche. 2011; 15 - 26.
  76. Boland P, Yurgelun M. and Boland C.  Recent progress in Lynch syndrome and other familial colorectal cancer syndromes. CA Cancer J Clin. 2018; 68(3): 217-231.
  77. Kang S, Park C, Chang D, et al. Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers. Int J Cancer. 2015; 136(7): 1568 - 1578.
  78. Church J. Polymerase Proofreading-Associated Polyposis. Dis Colon Rectum. 2014; 57(3): 396 – 397.
  79. Palles C, Cazier J, Howarth K, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nature Genetics. 2012; 45(2): 136 – 144. 
  80. Bellacosa A. Functional interactions and signaling properties of mammalian DNA mismatch repair proteins. Cell Death Differ. 2001; 8(11): 1076 - 1092.