Gastrointestinal Polyposes and Lynch Syndrome – a Pathologist’s Perspective
Authors:
Šárka Pokorová; Pavel Fabian
Authors‘ workplace:
Oddělení onkologické patologie, Masarykův onkologický ústav, Brno
Published in:
Klin Onkol 2019; 32(Supplementum2): 92-96
Category:
Review
doi:
https://doi.org/10.14735/amko2019S92
Overview
Gastrointestinal polyposes and Lynch syndrome are a group of heterogenous hereditary tumor syndromes associated with an increased risk of developing colorectal carcinoma and other malignancies. Typical early manifestations of gastrointestinal polyposes include multiple polyps in the gastrointestinal tract. Early recognition of these syndromes enables patients carrying a pathogenic mutation to undergo screening and to instigate precautions to minimize the risk of developing tumors. In some cases, gastrointestinal lesions could be an early indicator of tumor syndrome and histopathologic examination could lead to a recommendation for genetic testing of patients and their families.
Supported by Ministry of Health, Czech Republic – Conceptual Development of Research Organization (MMCI, 00209805).
The authors declare they have no potential conflicts of interest concerning drugs, products,or services used in the study.
The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers.
Submitted: 16. 4. 2019
Accepted: 6. 6. 2019
Keywords:
Lynch syndrome – gastrointestinal polyposes
Sources
1. Bosman FT, Carneiro F, Hruban RH et al. WHO classification of tumours of the digestive system. 4. vyd. Lyon: IARC Press 2010.
2. Ma H, Brosens LA, Offerhaus GJ et al. Pathology and genetics of hereditary colorectal cancer. Pathology 2018; 50 (1): 49–59. doi: 10.1016/j.pathol.2017.09. 004.
3. Aust DE, Baretton GB et al. Serrated polyps of the colon and rectum (hyperplastic polyps, sessile serrated adenomas, traditional serrated adenomas, and mixed polyps) -proposal for diagnostic criteria. Virchows Arch 2010; 457 (3): 291–297. doi: 10.1007/s00428-010-0 45-1.
4. Shaco-Levy R, Jasperson KW, Martin K et al. Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. Hum Pathol 2016; 49: 39–48. doi: 10.1016/j.humpath.2015.10.002.
5. Osmond A, Li-Chang H, Kirsch R et al. Interobserver variability in assessing dysplasia and architecture in colorectal adenomas: a multicentre Canadian study. J Clin Pathol 2014; 67 (9): 781–786. doi: 10.1136/jclinpath-2014-202177.
6. Costantini M, Sciallero S, Giannini A et al. Interobserver agreement in the histologic diagnosis of colorectal polyps. The experience of the multicenter adenoma colorectal study (SMAC). J Clin Epidemiol 2003; 56 (3): 209–214.
7. Jelsig AM, Qvist N, Brusgaard K et al. Hamartomatous polyposis syndromes: a review. Orphanet J Rare Dis 2014; 9: 101. doi: 10.1186/1750-1172-9-101.
8. Huber AR, Findeis-Hosey JJ, Whitney-Miller CL. Hereditary gastrointestinal polyposis syndromes: a review including newly identified syndromes. J Gastroint Dig Syst 2013; 3: 155. doi: 10.4172/2161-069X.1000155.
9. Campos FG, Figueiredo MN, Martinez CA. Colorectal cancer risk in hamartomatous polyposis syndromes. World J Gastrointest Surg 2015; 7 (3): 25–32. doi: 10.4240/wjgs.v7.i3.25.
10. Chen HM, Fang JY. Genetics of the hamartomatous polyposis syndromes: a molecular review. Int J Colorectal Dis 2009; 24 (8): 865–874. doi: 10.1007/s00384-009-0714-2.
11. Lucci-Cordisco E, Risio M, Venesio T et al. The growing complexity of the intestinal polyposis syndromes. Am J Med Genet 2013; 161A (11): 2777–2787. doi: 10.1002/ajmg.a.36253.
12. Shussman N, Wexner SD. Colorectal polyps and polyposis syndromes. Gastroenterol Rep (Oxf) 2014; 2 (1): 1–15. doi: 10.1093/gastro/got041.
13. Brosens LA, van Hattem WA, Jansen M et al. Gastrointestinal polyposis syndromes. Curr Mol Med 2007; 7 (1): 29–46.
14. Kacerovská D, Kazakov DV, Cerná K et al. Muir-Torre syndrom – fenotypicka varianta Lynchova syndromu. Cesk Patol 2010; 46 (4): 86–94.
15. Kloor M, Huth C, Voigt AY et al. Prevalence of mismatch repair-deficient crypt foci in Lynch syndrome: a pathological study. Lancet Oncol 2012; 13 (6): 598–606. doi: 10.1016/S1470-2045 (12) 70109-2.
16. Staffa L, Echterdiek F, Nelius N et al. Mismatch repair-deficient crypt foci in Lynch Syndrome – molecular alterations and association with clinical parameters. PLoS ONE 2015; 10 (3): e0121980. doi: 10.1371/journal.pone.0121980.
17. Dušek M, Hadravský L, Stehlík J et al. Výsledky morfologické depistáže Lynchova syndromu v období 2013–2016. Cesk Patol 2018; 54 (2): 86–92.
18. Hampel H, Frankel W, Panescu J et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 2006; 66 (15): 7810–7817. doi: 10.1158/0008-5472.CAN-06-1114.
19. Dušek M, Hadravský L, Černá K et al. Diagnóza Lynchova syndromu od patologa. Klin Onkol 2016; 29 (3): 180–186. doi: 10.14735/amko2016180.
20. Daum O, Beneš Z, Hadravsky L et al. Lynchův syndrom v rukach patologa. Cesk Patol 2014; 50 (1): 18–24.
21. Chintalacheruvu LM, Shaw T, Buddam A et al. Major hereditary gastrointestinal cancer syndromes: a narrative review. J Gastrointestin Liver Dis 2017; 26 (2): 157–163. doi: 10.15403/jgld.2014.1121.262.maj.
22. Wells K, Wise PE. Hereditary colorectal cancer syndromes. Surg Clin North Am 2017; 97 (3): 605–625. doi: 10.1016/j.suc.2017.01.009.
Labels
Paediatric clinical oncology Surgery Clinical oncologyArticle was published in
Clinical Oncology
2019 Issue Supplementum2
Most read in this issue
- Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition – Mutation Types and their Biological and Clinical Relevance
- Risks of Solid Tumors in Heterozygous Carriers of Recessive Syndromes
- Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer
- An Update on Inherited Colon Cancer and Gastrointestinal Polyposis