Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome

Human Pathology

Volumn 46, Issue 11, 2015, Pages 1616-1625

  Mas Moya, Jenny ^a   Dudley, Beth ^b   Brand, Randall E ^b   Thull, Darcy ^b   Bahary, Nathan ^b   Nikiforova, Marina N ^a   Pai, Reetesh K ^a  

^a PRESBYTERIAN UNIVERSITY HOSPITAL   (United States)

^b UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

Author keywords

Colorectal carcinoma; Endometrial carcinoma; Lynch syndrome; Lynch like syndrome; Mismatch repair protein; MSI

Indexed keywords

PROTEIN MSH6; B RAF KINASE; BRAF PROTEIN, HUMAN; MLH1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; AGED; ARTICLE; CANCER PATIENT; CLINICAL FEATURE; COLORECTAL CARCINOMA; COMPARATIVE STUDY; CORRELATIONAL STUDY; ENDOMETRIUM CARCINOMA; FEMALE; GENE EXPRESSION; GENE MUTATION; GERMLINE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; LYNCH LIKE SYNDROME; MAJOR CLINICAL STUDY; MALE; COLORECTAL TUMOR; ENDOMETRIUM TUMOR; GENETICS; MICROSATELLITE INSTABILITY; MIDDLE AGED; MISMATCH REPAIR; PATHOLOGY; PROMOTER REGION; YOUNG ADULT;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; ENDOMETRIAL NEOPLASMS; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; NUCLEAR PROTEINS; PROMOTER REGIONS, GENETIC; PROTO-ONCOGENE PROTEINS B-RAF; YOUNG ADULT;

EID: 84945474584     PISSN: 00468177     EISSN: 15328392     Source Type: Journal    
DOI: 10.1016/j.humpath.2015.06.022     Document Type: Article

References (32)

1. Evaluation of Genomic Applications in Practice, Prevention 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 11 2009 35 41
2. R.W. Burt, J.A. Cannon, D.S. David, and et al. Colorectal cancer screening J Natl Compr Canc Netw 11 2013 1538 1575
3. A.M. Mills, S. Liou, J.M. Ford, J.S. Berek, R.K. Pai, and T.A. Longacre Lynch syndrome screening should be considered for all patients with newly diagnosed endometrial cancer Am J Surg Pathol 38 2014 1501 1509
4. D.D. Buchanan, Y.Y. Tan, M.D. Walsh, and et al. Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing J Clin Oncol 32 2014 90 100
5. M.J. Ligtenberg, R.P. Kuiper, A. Geurts van Kessel, and N. Hoogerbrugge EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients Fam Cancer 12 2013 169 174
6. M. Rodriguez-Soler, L. Perez-Carbonell, C. Guarinos, and et al. Risk of cancer in cases of suspected lynch syndrome without germline mutation Gastroenterology 144 2013 926 932
7. F. Bianchi, E. Galizia, R. Catalani, and et al. CAT25 is a mononucleotide marker to identify HNPCC patients J Mol Diagn 11 2009 248 252
8. S.A. Yousem, M. Nikiforova, and Y. Nikiforov The histopathology of BRAF-V600E-mutated lung adenocarcinoma Am J Surg Pathol 32 2008 1317 1321
9. H.F. Vasen, P. Watson, J.P. Mecklin, and H.T. Lynch New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC Gastroenterology 116 1999 1453 1456
10. J. Young, L.A. Simms, K.G. Biden, and et al. Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis Am J Pathol 159 2001 2107 2116
11. D.M. Graham, and H.D. Appelman Crohn's-like lymphoid reaction and colorectal carcinoma: a potential histologic prognosticator Mod Pathol 3 1990 332 335
12. D.C. Snover, D.J. Ahnen, R.W. Burt, and R.D. Odze Serrated polyps of the colon and rectum and serrated polyposis F.T. Bosman, F. Carneiro, R.H. Hruban, N.D. Theise, WHO classification of tumors of the digestive system 2010 IARC Press Lyon, France 160 165
13. S.R. Hamilton, F.T. Bosman, P. Boffetta, and et al. Carcinoma of the colon and rectum F.T. Bosman, F. Carneiro, R.H. Hruban, N.D. Theise, WHO classification of tumors of the digestive system 2010 IARC Press Lyon, France 134 147
14. I. Zighelboim, M.A. Powell, S.A. Babb, and et al. Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome Fam Cancer 8 2009 501 504
15. F.M. Giardiello, J.I. Allen, J.E. Axilbund, and et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer Gastroenterology 147 2014 502 526
16. Myriad Genetics Lynch syndrome [cited June 5, 2015]; Available from: https://www.myriadpro.com/
17. Ambry Genetics Lynch syndrome [cited June 5, 2015]; Available from http://www.ambrygen.com/tests/lynch-syndrome
18. A.K. Win, D.D. Buchanan, C. Rosty, and et al. Role of tumour molecular and pathology features to estimate colorectal cancer risk for first-degree relatives Gut 64 2015 101 110
19. D.D. Buchanan, C. Rosty, M. Clendenning, A.B. Spurdle, and A.K. Win Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome) Appl Clin Genet 7 2014 183 193
20. H. Hampel, W.L. Frankel, E. Martin, and et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer) N Engl J Med 352 2005 1851 1860
21. C.H. Leenen, M.G. van Lier, H.C. van Doorn, and et al. Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer
22. J. Moline, H. Mahdi, B. Yang, and et al. Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center Gynecol Oncol 130 2013 121 126
23. H. Hampel, W. Frankel, J. Panescu, and et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients Cancer Res 66 2006 7810 7817
24. B. Heald, T. Plesec, X. Liu, and et al. Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center J Clin Oncol 31 2013 1336 1340
25. S. Haraldsdottir, H. Hampel, J. Tomsic, and et al. Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations Gastroenterology 147 2014 1308 1316
26. A.R. Mensenkamp, I.P. Vogelaar, W.A. van Zelst-Stams, and et al. Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors Gastroenterology 146 2014 643 646
27. W.R. Geurts-Giele, C.H. Leenen, H.J. Dubbink, and et al. Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers J Pathol 234 2014 548 559
28. I. Sourrouille, F. Coulet, J.H. Lefevre, and et al. Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors Fam Cancer 12 2013 27 33
29. A. Castillejo, G. Vargas, M.I. Castillejo, and et al. Prevalence of germline MUTYH mutations among Lynch-like syndrome patients Eur J Cancer 50 2014 2241 2250
30. M.J. O'Brien, S. Yang, C. Mack, and et al. Comparison of microsatellite instability, CpG island methylation phenotype, BRAF and KRAS status in serrated polyps and traditional adenomas indicates separate pathways to distinct colorectal carcinoma end points Am J Surg Pathol 30 2006 1491 1501
31. M.D. Walsh, D.D. Buchanan, S.A. Pearson, and et al. Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry Mod Pathol 25 2012 722 730
32. J. Rhees, M. Arnold, and C.R. Boland Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population Fam Cancer 13 2014 219 225