On the advent of MSI testing of all colorectal cancers and a substantial part of other Lynch syndrome-related neoplasms

Expert Review of Molecular Diagnostics

Volumn 10, Issue 4, 2010, Pages 381-384

  Dinjens, Winand Nm ^b   Van Leerdam, Monique E ^a   Wagner, Anja ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ATR PROTEIN; B RAF KINASE; FLUOROURACIL; FOLINIC ACID; IRINOTECAN; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

CANCER DIAGNOSIS; COLON RESECTION; COLORECTAL CANCER; DISEASE PREDISPOSITION; EARLY DIAGNOSIS; EDITORIAL; ENDOMETRIUM CANCER; FAMILIAL CANCER; GENE MUTATION; HETEROZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MULTIPLEX POLYMERASE CHAIN REACTION; NONHUMAN; OVARY CANCER; POLYMERASE CHAIN REACTION; PROTEIN EXPRESSION; SENSITIVITY ANALYSIS;

COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; GENETIC TESTING; HUMANS; MICROSATELLITE INSTABILITY; RISK FACTORS;

EID: 77952529459     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/erm.10.37     Document Type: Editorial

References (30)

1. Vasen HF, Wijnen JT, Menko FH et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 110 (4), 1020-1027 (1996).
2. Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J. Med. Genet. 36 (11), 801-818 (1999).
3. Boland CR. Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Fam. Cancer 4 (3), 211-218 (2005).
4. van Lier MG, Wagner A, van Leerdam ME et al. A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory. J. Cell. Mol. Med. DOI: 10.1111/j.1582-4934.2009.00977 (2009) (Epub ahead of print).
5. Young WF Jr. Management approaches to adrenal incidentalomas. A view from Rochester, Minnesota. Endocrinol. Metab. Clin. North Am. 29 (1), 159-185 (2000).
6. Jarvinen HJ, Aarnio M, Mustonen H et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 118 (5), 829-834 (2000).
7. Schmeler KM, Lynch HT, Chen LM et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N. Engl. J. Med. 354 (3), 261-269 (2006).
8. 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 116 (6), 1453-1456 (1999).
9. Umar A, Boland CR, Terdiman JP et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J. Natl Cancer Inst. 96 (4), 261-268 (2004). (Pubitemid 38256271)
10. Van Lier MG, De Wilt JH, Wagemakers JJ et al. Underutilization of microsatellite instability analysis in colorectal cancer patients at high risk for Lynch syndrome. Scand. J. Gastroenterol. 44 (5), 600-604 (2009).
11. Lindor NM, Petersen GM, Hadley DW et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 296 (12), 1507-1517 (2006).
12. Sijmons RH, Boonstra AE, Reefhuis J et al. Accuracy of family history of cancer: clinical genetic implications. Eur. J. Hum. Genet. 8 (3), 181-186 (2000).
13. Kievit W, de Bruin JH, Adang EM et al. Cost effectiveness of a new strategy to identify HNPCC patients. Gut 54 (1), 97-102 (2005).
14. De Bruin JH, Ligtenberg MJ, Nagengast FM et al. Optimizing the detection of hereditary non-polyposis colorectal cancer: an update. Scand. J. Gastroenterol. 243 (Suppl.), 146-152 (2006).
15. Hampel H, Frankel WL, Martin E et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J. Clin. Oncol. 26 (35), 5783-5788 (2008).
16. Mvundura M, Grosse SD, Hampel H, Palomaki GE. The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet. Med. 12 (2), 93-104 (2010).
17. Shia J. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J. Mol. Diagn. 10 (4), 293-300 (2008).
18. Shia J, Tang LH, Vakiani E et al. Immunohistochemistry as first-line screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: a 2-antibody panel may be as predictive as a 4-antibody panel. Am. J. Surg. Pathol. 33 (11), 1639-1645 (2009).
19. Vasen HF, Moslein G, Alonso A et al. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Fam. Cancer (2009) (Epub ahead of print).
20. Overbeek LI, Ligtenberg MJ, Willems RW et al. Interpretation of immunohistochemistry for mismatch repair proteins is only reliable in a specialized setting. Am. J. Surg. Pathol. 32 (8), 1246-1251 (2008).
21. 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. 11 (1), 35-41 (2009).
22. Halvarsson B, Lindblom A, Rambech E, Lagerstedt K, Nilbert M. Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer? Virchows Arch. 444 (2), 135-141 (2004). (Pubitemid 38315290)
23. Ferreira AM, Westers H, Sousa S et al. Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients. J. Pathol. 219 (1), 96-102 (2009).
24. Bacher J W, Flanagan LA, Smalley RL et al. Development of a fluorescent multiplex assay for detection of MSI-high tumors. Dis. Markers 20 (4-5), 237-250 (2004).
25. Suraweera N, Duval A, Reperant M et al. Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology 123 (6), 1804-1811 (2002).
26. Popat S, Hubner R, Houlston RS. Systematic review of microsatellite instability and colorectal cancer prognosis. J. Clin. Oncol. 23 (3), 609-618 (2005).
27. Newton K, Hill J. 5-FU and mismatch repair deficient colorectal cancer: is it time to consider a change in practice? Colorectal Dis. (2010) (Epub ahead of print).
28. Bertagnolli MM, Niedzwiecki D, Compton CC et al. Microsatellite instability predicts improved response to adjuvant therapy with irinotecan, fluorouracil, and leucovorin in stage III colon cancer: Cancer and Leukemia Group B Protocol 89803. J. Clin. Oncol. 27 (11), 1814-1821 (2009).
29. Zlobec I, Kovac M, Erzberger P et al. Combined analysis of specific KRAS mutation, BRAF and microsatellite instability identifies prognostic subgroups of sporadic and hereditary colorectal cancer. Int. J. Cancer DOI: 10.1002/ijc.25265 (2010) (Epub ahead of print).
30. Zighelboim I, Schmidt A P, Gao F et al. ATR mutation in endometrioid endometrial cancer is associated with poor clinical outcomes. J. Clin. Oncol. 27 (19), 3091-3096 (2009).