Lynch syndrome screening in newly diagnosed colorectal cancer in general pathology practice: From the revised Bethesda guidelines to a universal approach

Scandinavian Journal of Gastroenterology

Volumn 46, Issue 11, 2011, Pages 1340-1348

  Morrison, Jane ^a   Bronner, Mary ^b   Leach, Brandie H ^c   Downs Kelly, Erinn ^a   Goldblum, John R ^a   Liu, Xiuli ^a  

^a CLEVELAND CLINIC LERNER COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Colorectal cancer; Lynch syndrome; microsatellite instability; the revised Bethesda guidelines; universal screening

Indexed keywords

ADULT; ARTICLE; CANCER SCREENING; CANCER SIZE; CANCER STAGING; FEMALE; GENETIC SCREENING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; PRACTICE GUIDELINE; PRIMARY TUMOR; PRIORITY JOURNAL; RETROSPECTIVE STUDY;

AGE FACTORS; AGED; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FEMALE; GENETIC TESTING; HUMANS; MALE; MASS SCREENING; MICROSATELLITE INSTABILITY; MIDDLE AGED; PRACTICE GUIDELINES AS TOPIC; RETROSPECTIVE STUDIES;

EID: 80054081678     PISSN: 00365521     EISSN: 15027708     Source Type: Journal    
DOI: 10.3109/00365521.2011.610003     Document Type: Article

References (22)

1. Dinjens WNM, van Leerdam ME, Wagner A. On the advent of MSI testing of all colorectal cancers and a substantial part of other Lynch syndrome-related neoplasms. Expert Rev Mol Diagn 2010;10:381-4.
2. Van Lier MG, de Wilt JH, Wagemakers JJ, Dinjens WN, Damhuis RA, Wagner A, et al. Underutilization of microsatellite instability analysis in colorectal cancer patients at high risk for Lynch syndrome. Scand J Gastroenterol 2009; 44:600-4.
3. Mecklin JP. Frequency of hereditary colorectal carcinoma. Gastroenterology 1987;93:1021-5.
4. Ponz de Leon M, Sassatelli R, Sacchetti C, Zanghieri G, Scalmati A, Roncucci L, et al. Familial aggregation of tumors in the three-year experience of a population-based colorectal cancer registry. Cancer Res 1989;49:4344-8.
5. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005; 352:1851-60.
6. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 2008;26: 5783-8.
7. Lynch HT, de La Chapelle A. Hereditary colorectal cancer. N Engl J Med 2003;348:919-32.
8. Vasen HF, Möslein G, Alonso A, Bernstein I, Bertario L, Blanco I, et al. Guidelines for the clinical management of Lynch syndrome (hereditary nonpolyposis colorectal cancer). J Med Genet 2007;44:353-62.
9. Alexander J, Watanabe T, Wu TT, Rashid A, Li S, Hamilton SR. Histopathological identification of colon cancer with microsatellite instability. Am J Clin Pathol 2001;158: 527-35.
10. Greenson JK, Bonner JD, Ben-Yzhak O, Greenson JK, Bonner JD, Ben-Yzhak O, et al. Phenotype of microsatellite unstable colorectal carcinomas: Well differentiated and focally mucinous tumors and the absence of dirty necrosis correlate with microsatellite instability. Am J Surg Pathol 2003;27:563-70.
11. Greenson JK, Huang S-C, Herron C, Moreno V, Bonner JD, Tomsho LP, et al. Pathologic predictors of microsatellite instability in colorectal cancer. Am J Surg Pathol 2009:33: 126-133.
12. Halvarrson B, Anderson H, Domanska K, Lindmark G, Nilbert M. Clinicopathologic factors identify sporadic mismatch repair-defective colon cancers. Am J Clin Pathol 2008; 129:238-44.
13. Román R, Verdu M, Calvo M, Vidal A, Sanjuan X, Jimeno M, et al. Microsatellite instability of the colorectal carcinoma can be predicted in the conventional pathologic examination. A prospective multicentric study and the statistical analysis of 615 cases consolidate our previously proposed logistic regression model. Virchows Arch 2010; 456:533-41.
14. Järviven HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomäki P, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary non-polyposis colorectal cancer. Gastroenterology 2000;118: 829-34.
15. de Jong AE, Hendriks YM, Kleibeuker JH, de Boer SY, Cats A, Griffioen G, et al. Decrease in mortality in Lynch syndrome families because of surveillance. Gastroenterology 2006;130:665-71.
16. Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004;96:261-8.
17. Gologan A, Krasinskas A, Hunt J, Thull DL, Farkas L, Sepulveda AR. Performance of the revised Bethesda guidelines for identification of colorectal carcinomas with a high level of microsatellite instability. Arch Pathol Lab Med 2005; 129:1390-7.
18. Bacher JW, Flanagan LA, Smalley RL, Nassif NA, Burgart LJ, Halberg RB, et al. Development of a fluorescent multiplex assay for detection of MSI-High tumors. Dis Markers 2004;20:237-50.
19. Esemuede I, Forslund A, Khan SA, et al. Improved testing for microsatellite instability in colorectal cancer using a simplified 3-marker assay. Ann Surg Oncol 2010; 17:3370-8.
20. Mvundura M, Grosse SD, Hampel H, et al. The costeffectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet Med 2010;12:93-104.
21. Samowitz WS, Curtin K, Ma KN, et al. Microsatellite instability in sporadic colon cancer is associated with an improved prognosis at the population level. Cancer Epidemiol Biomarkers Prev 2001;10:917-23.
22. Evaluation of genomic applications in practice and prevention (EGAPP) working group. Recommendations from the EGAPP working group: Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med 2009;11:35-41.