Colorectal adenomas in young patients: Microsatellite instability is not a useful marker to detect new cases of Lynch syndrome

Diseases of the Colon and Rectum

Volumn 51, Issue 6, 2008, Pages 909-915

  Ferreira, Sara ^a   Claro, Isabel ^a   Lage, Pedro ^a   Filipe, Bruno ^a   Fonseca, Ricardo ^a   Sousa, Rita ^a   Francisco, Inês ^a   Chaves, Paula ^a   Albuquerque, Cristina ^a   Leitão, Carlos Nobre ^a  

^a INSTITUTO PORTUGUÊS DE ONCOLOGIA DE LISBOA FRANCISCO GENTIL   (Portugal)

Author keywords

Bethesda Guidelines; Colorectal adenomas; Lynch syndrome; Microsatellite instability

Indexed keywords

ADULT; ARTICLE; CANCER LOCALIZATION; COLORECTAL ADENOMA; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; HISTOLOGY; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; MLH1 GENE; MSH2 GENE; MUTATIONAL ANALYSIS;

ADENOMA; ADULT; ANALYSIS OF VARIANCE; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MICROSATELLITE INSTABILITY; TUMOR MARKERS, BIOLOGICAL;

EID: 44749086378     PISSN: 00123706     EISSN: 15300358     Source Type: Journal    
DOI: 10.1007/s10350-008-9224-5     Document Type: Article

References (29)

1. Papadopoulos N, Lindblom A. Molecular basis of HNPCC: mutations of MMR genes. Hum Mutat 1997;10:89-99.
2. Watson P, Lynch HT. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 1993;71:677-85.
3. Aaltonen LA, Peltomaki P, Leach FS, et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993;260:812-6.
4. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991;34:424-5.
5. 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;116:1453-6.
6. Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997;89:1758-62.
7. Boland CR, Thibodeau SN, Hamilton SR, 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;58:5248-57.
8. Umar A, Boland R, Terdiman J, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004;96:261-8.
9. Samowitz WS, Slattery ML, Potter JD, et al. BAT-26 and BAT-40 instability in colorectal adenomas and carcinomas and germline polymorphisms. Am J Pathol 1999;154:1637-41.
10. Rovella V, Carrara S, Cogliandolo S, et al. Familial microsatellite- stable non-polyposis colorectal cancer: incidence and characteristics in a clinic-based population. Ann Oncol 2001;12:813-8.
11. Cravo M, Lage P, Albuquerque C, et al. BAT-26 identifies sporadic colorectal cancers with mutator phenotype: a correlative study with clinico-pathological features and mutations in mismatch repair genes. J Pathol 1999;188:252-7.
12. Nyström-Lahti M, Wu Y, Moisio A-L, et al. DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet 1996;5:763-9.
13. Wu Y, Nyström-Lahti M, Osinga J, et al. MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. Genes Chromosomes Cancer 1997;18:269-78.
14. Stoffel E, Syngal S. Adenomas in young patients: what is the optimal evaluation? Am J Gastroenterol 2005;100:1150-3.
15. Velayos F, Allen B, Conrad P, et al. Low rate of microsatellite instability in young patients with adenomas: reassessing the Bethesda Guidelines. Am J Gastroenterol 2005;100:1143-9.
16. Loukola A, Salovaara R, Kristo P, et al. Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer. Am J Pathol 1999;155:1849-53.
17. Jass JR, Stewart SM. Evolution of hereditary non-polyposis colorectal cancer. Gut 1992;33:783-6.
18. Jass JR, Stewart SM, Stewart J, Lane MR. Hereditary non-polyposis colorectal cancer: morphologies, genes and mutations. Mutat Res 1994;290:125-33.
19. Muller A, Giuffre G, Edmonstron T, et al. Challenges and pitfalls in HNPCC screening by microsatellite analysis and immunohistochemistry. J Mol Diagnostics 2004;6:308-15.
20. Rijcken FE, Hollema H, Kleibeuker JH. Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation. Gut 2002;50:382-6.
21. Iino H, Simms L, Young J, et al. DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary non-polyposis colorectal cancer. Gut 2000;47:37-42.
22. Kouraklis G, Misiakos P. Hereditary nonpolyposis colorectal cancer (Lynch syndrome): criteria for identification and management. Dig Dis Sci 2005;50:336-44.
23. Muller A, Edmonston B, Dietmaier W, Buttner R, Fishel R, Rushoff J. MSI-testing in hereditary nonpolyposis colorectal cancer (HNPCC). Dis Markers 2004;20:225-36.
24. Sciemann U, Muller-Koch Y, Gross M, et al. Extended microsatellite analysis in microsatellite stable, MSH2 and MLH1 mutation-negative HNPCC patients: genetic reclassification and correlation with clinical features. Digestion 2004;69:166-76.
25. De Jong A, Morreau H, Van Puijenbroek M, et al. The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC. Gastroenterology 2004;126:42-8.
26. Muller A, Beckmann C, Westphal G, et al. German HNPCC Consortium. Prevalence of the mismatch-repair-deficient phenotype in colonic adenomas arising in HNPCC patients: results of a 5-year follow-up study. Int J Colorectal Dis 2006;21:632-41.
27. Konishi M, Kikichi-Yanoshita R, Tanaka K, et al. Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer. Gastroenterology 1996;111:307-17.
28. Hoang J, Cottu P, Thuille B, Salmon RJ, Thomas G, Hamelin R. BAT-26, an indicator of the replication error phenotype in colorectal cancers and cell lines. Cancer Res 1997;57:300-3.
29. Halvarsson B, Lindblom A, Johanddon L, Lagerstedt K, Nilbert M. Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer. Mod Pathol 2005;18:1095-101.