High-level microsatellite instability in appendiceal carcinomas

American Journal of Surgical Pathology

Volumn 37, Issue 8, 2013, Pages 1192-1200

  Taggart, Melissa W ^a   Galbincea, John ^a   Mansfield, Paul F ^a   Fournier, Keith F ^a   Royal, Richard E ^a   Overman, Michael J ^a   Rashid, Asif ^a   Abraham, Susan C ^a  

^a UNIVERSITY OF TEXAS   (United States)

Author keywords

appendiceal carcinoma; appendix; Lynch syndrome; microsatellite instability; MSI

Indexed keywords

ADENOSINE TRIPHOSPHATASE; DNA BINDING PROTEIN; G T MISMATCH BINDING PROTEIN; G-T MISMATCH-BINDING PROTEIN; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; NUCLEAR PROTEIN; PMS2 PROTEIN, HUMAN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; PROTEIN MSH2; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR MARKER;

ADOLESCENT; ADULT; AGED; APPENDIX TUMOR; ARTICLE; CARCINOMA; CASE REPORT; CHEMISTRY; DNA METHYLATION; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; POLYMERASE CHAIN REACTION; PREVALENCE; PROMOTER REGION; UNITED STATES;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AGED; APPENDICEAL NEOPLASMS; CARCINOMA; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PHENOTYPE; POLYMERASE CHAIN REACTION; PREVALENCE; PROMOTER REGIONS, GENETIC; TEXAS; TUMOR MARKERS, BIOLOGICAL; YOUNG ADULT;

EID: 84880571371     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0b013e318282649b     Document Type: Article

References (38)

1. Vilar E, Gruber SB. Microsatellite instability in colorectal cancer - the stable evidence. Nat Rev Clin Oncol. 2010;7:153-162
2. Iacopetta B, Grieu F, Amanuel B. Microsatellite instability in colorectal cancer. Asia Pac J Clin Oncol. 2010;6:260-269
3. Aaltonen LA, Salovaara R, Kristo P, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med. 1998;338:1481-1487
4. Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005;352:1851-1860
5. Salovaara R, Loukola A, Kristo P, et al. Population-based molecular detection of hereditary nonpolypsis colorectal cancer. J Clin Oncol. 2000;18:2193-2200
6. Ligtenberg MJ, Kuiper RP, Chan TL, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 30 exons of TACSTD1. Nat Genet. 2009;41:112-117
7. Hughes LA, Khalid-de Bakker CA, Smits KM, et al. The CpG island methylator phenotype in colorectal cancer: Progress and problems. Biochim Biophys Acta. 2012;1825:77-85
8. Alexander J, Watanabe T, Wu TT, et al. Histopathological identification of colon cancer with microsatellite instability. Am J Pathol. 2001;158:527-535
9. Yearsley M, Hampel H, Lehman A, et al. Histologic features distinguish microsatellite-high from microsatellite-low and microsatellite- stable colorectal carcinomas, but do not differentiate germline mutations from methylation of the MLH1 promoter. Hum Pathol. 2006;37:831-838
10. Laghi L, Malesci A. Microsatellite instability and therapeutic consequences in colorectal cancer. Dig Dis. 2012;30:304-309
11. McGory ML, Maggard MA, Kang H, et al. Malignancies of the appendix: Beyond case series reports. Dis Colon Rectum. 2005;48:2264-2271
12. Misdraji J, Young RH. Primary epithelial neoplasms and other epithelial lesions of the appendix (excluding carcinoid tumors). Semin Diagn Pathol. 2004;21:120-133
13. Sugarbaker PH. Epithelial appendiceal neoplasms. Cancer J. 2009;15:225-235
14. Gologan A, Krasinskas A, Hunt J, et al. Performance of the revised Bethesda guidelines for identification of colorectal carcinomas with a high level of microsatellite instability. Arch Pathol Lab Med. 2005;129:1390-1397
15. Hampel H, Frankel WL, Martin E, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol. 2008;26:5783-5788
16. Kabbani W, Houlihan PS, Luthra R, et al. Mucinous and nonmucinous appendiceal adenocarcinomas: Different clinicopathological features but similar genetic alterations. Mod Pathol. 2002;15:599-605
17. Yoon SO, Kim BH, Lee HS, et al. Differential protein immunoexpression profiles in appendiceal mucinous neoplasms: A special reference to classification and predictive factors. Mod Pathol. 2009;22:1102-1112
18. Zauber P, Berman E, Marotta S, et al. Ki-ras gene mutations are invariably present in low-grade mucinous tumors of the vermiform appendix. Scand J Gastroenterol. 2011;46:869-874
19. Koorey D, Basha NJ, Tomaras C, et al. Appendiceal adenocinoma complicating adenomatous polyposis in a young woman with a de novo constitutional reciprocal translocation t(5;8)(q22;p23.1). J Med Genet. 2000;37:71-75
20. Racek AR, Rabe KG, Wick MJ, et al. Primary appendiceal mucinous adenocarcinoma in two first-degree relatives: Case report and review. Hered Cancer Clin Pract. 2011;9:1-4
21. Shih IM, Yan H, Speyrer D, et al. Molecular genetic analysis of appendiceal mucinous adenomas in identical twins, including one with pseudomyxoma peritonei. Am J Surg Pathol. 2001;25:1095-1099
22. Freeman HJ. Duplicated appendix complicated by appendiceal cancer. World J Gastroenterol. 2011;17:135-136
23. Rossi G, Bertolini F, Sartori G, et al. Primary mixed adenocarcinoma and small cell carcinoma of the appendix. A clinicopathologic, immunohistochemical, and molecular study of a hitherto unreported tumor. Am J Surg Pathol. 2004;28:1233-1239
24. Soilleux E, Arends MJ, Cluroe AD. Multiple mucinous tumours. Pathology. 2005;37:91-92
25. Karamurzin Y, Zeng Z, Stadler ZK, et al. Unusual DNA mismatch repair-deficient tumors in Lynch syndrome: A report of new cases and review of the literature. Hum Pathol. 2012;43:1677-1687
26. Komm M, Kronawitter-Fesl M, Kremer M, et al. Primary mucinous adenocarcinoma of the vermiform appendix with high grade microsatellite instability. J Cancer. 2011;2:302-306
27. Misdraji J, Burgart LJ, Lauwers GY. Defective mismatch repair in the pathogenesis of low-grade appendiceal mucinous neoplasms and adenocarcinomas. Mod Pathol. 2004;17:1447-1454
28. Rudzki Z, Zazula M, Bialas M, et al. Synchronous serrated adenoma of the appendix and high-grade ovarian carcinoma: A case demonstrating different origin of the two neoplasms. Pol J Pathol. 2002;53:29-34
29. Yantiss RK, Panczykowski A, Misdraji J, et al. A comprehensive study of nondysplastic and dysplastic serrated polyps of the vermiform appendix. Am J Surg Pathol. 2007;31:1742-1753
30. Edge SB, Byrd DR, Carducci MA, et al. AJCC Cancer Staging Manual. 7th ed. New York, NY: Springer; 2009
31. Schumpelick V, Dreuw B, Ophoff K, et al. Appendix and cecum. Embryology, anatomy, and surgical applications. Surg Clin North Am. 2000;80:295-318
32. Cunningham JM, Kim CY, Christensen ER, et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet. 2001;69:780-790
33. Limburg PJ, Harmsen WS, Chen HH, et al. Prevalence of alterations in DNA mismatch repair genes in patients with youngonset colorectal cancer. Clin Gastroenterol Hepatol. 2011;9:497-502
34. 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. 2008;32:1246-1251
35. Lyda MH, Noffsinger A, Belli J, et al. Multifocal neoplasia involving the colon and appendix in ulcerative colitis: Pathological and molecular features. Gastroenterology. 1998;115:1566-1573
36. Poynter JN, Siegmund KD, Weisenberger DJ, et al. Molecular characterization of MSI-H colorectal cancer by MLH1 promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening. Cancer Epidemiol Biomarkers Prev. 2008;17: 3208-3215
37. van Lier MG, Leenen CH, Wagner A, et al. Yield of routine molecular analyses in colorectal cancer patients r70 years to detect underlying Lynch syndrome. J Pathol. 2012;226:764-774
38. Parsons MT, Buchanan DD, Thompson B, et al. Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: A literature review assessing utility of tumour features for MMR variant classification. J Med Genet. 2012;49:151-157