Advertisement
Review Article| Volume 33, ISSUE 4, P835-859, December 2013

Download started.

Ok

Molecular Diagnostics in Colorectal Carcinoma

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribers receive full online access to your subscription and archive of back issues up to and including 2002.

      Content published before 2002 is available via pay-per-view purchase only.

      Subscribe:

      Subscribe to Clinics in Laboratory Medicine
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • O’Brien M.J.
        • Yang S.
        • Huang C.S.
        • et al.
        The serrated polyp pathway to colorectal carcinoma. Mini-symposium: pathology of the large bowel.
        Diagn Histopathol. 2008; 14
        • Vogelstein B.
        • Fearon E.R.
        • Stanley S.R.
        • et al.
        Genetic alterations during colorectal tumor development.
        N Engl J Med. 1988; 319: 525-532
        • Ogino S.
        • Goel A.
        Molecular classification and correlates in colorectal cancer.
        J Mol Diagn. 2008; 10: 13-27
        • Redston M.
        Epithelial neoplasms of the large intestine.
        in: Odze R.D. Goldblum J.R. Surgical pathology of the GI tract, liver, biliary tract and pancreas. 2nd edition. ExpertConsult, Saunders Elsevier, Pennsylvania, Philadelphia2004
        • Omundsen M.
        • Lam F.F.
        The other colonic polyposis syndromes.
        ANZ J Surg. 2012; 82: 675-681
        • Lynch H.T.
        • Lynch J.F.
        What the physician needs to know about Lynch syndrome: an update.
        Oncology. 2005; 19: 455-463
        • Abdel-Rahman W.M.
        • Mecklin J.P.
        • Peltomaki P.
        The genetics of HNPCC: application to diagnosis and screening.
        Crit Rev Oncol Hematol. 2006; 58: 208-220
        • Gruber S.B.
        New developments in Lynch syndrome (hereditary nonpolyposis colorectal cancer) and mismatch repair gene testing.
        Gastroenterology. 2006; 130: 577-587
        • Woods M.O.
        • Williams P.
        • Careen A.
        • et al.
        A new variant database for mismatch repair genes associated with Lynch syndrome.
        Hum Mutat. 2007; 28: 669-673
        • Rowan A.J.
        • Lamlum H.
        • Ilyas M.
        • et al.
        APC mutations in sporadic colorectal tumors: a mutational ‘‘hotspot’’ and interdependence of the ‘‘two hits’’.
        Proc Natl Acad Sci USA. 2000; 97: 3352-3357
        • Turner J.R.
        The gastrointestinal tract.
        in: Kumar V. Abbas A.K. Fausto N. Robbins and Cotran pathologic basis of disease. 8th edition. Studentconsult, Suanders Elsevier, Philadelphia, Pennsylvania2010: 763-832
        • Umar A.
        • Boland C.R.
        • Redston M.
        Carcinogenesis in the GI tract: from morphology to genetics and back again.
        Mod Pathol. 2001; 14: 236-245
        • Pérez-Cabornero L.
        • Infante Sanz M.
        • Velasco Sampedro E.
        • et al.
        Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5’ part of MSH2.
        Cancer Prev Res (Phila). 2011; 4: 1556-1562
        • Jass J.R.
        Classification of colorectal cancer based on correlation of clinical, morphological and molecular features.
        Histopathology. 2007; 50: 113-130
        • Thibodeau S.N.
        • Bren G.
        • Schaid D.
        Microsatellite instability in cancer of the proximal colon.
        Science. 1993; 260: 816-819
        • Goel A.
        • Arnold C.N.
        • Boland C.R.
        Multistep progression of colorectal cancer in the setting of microsatellite instability: new details and novel insights.
        Gastroenterology. 2001; 121: 1497-1502
        • Markowitz S.
        • Wang J.
        • Myeroff L.
        • et al.
        Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability.
        Science. 1995; 268: 1336-1338
        • Umar A.
        • Boland C.R.
        • Terdiman J.P.
        • et al.
        Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
        J Natl Cancer Inst. 2004; 96: 261-268
      1. NCCN clinical practice guidelines in oncology (NCCN guidelines). Colon cancer. Version 3. 2013. Available at: nccn.org/professionals/physician_gls/pdf/colon.pdf. Accessed May 2, 2013.

        • Gray R.
        • Barnwell J.
        • McConkey C.
        • et al.
        Adjuvant chemotherapy versus observation in patients with colorectal cancer: a randomised study.
        Lancet. 2007; 370: 2020-2029
        • Bedeir A.
        • Krasinskas A.M.
        Molecular diagnostics of colorectal cancer.
        Arch Pathol Lab Med. 2011; 135: 578-587
        • Boland C.R.
        • Thibodeau S.N.
        • Hamilton S.R.
        • 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: 5248-5257
        • O’Brien M.J.
        Hyperplastic and serrated polyps of the colorectum.
        Gastroenterol Clin North Am. 2007; 36: 947-968
        • Bettington M.
        • Walker N.
        • Clouston A.
        • et al.
        The serrated pathway to colorectal carcinoma: current concepts and challenges.
        Histopathology. 2013; 62: 367-386
        • Rajagopalan H.
        • Bardelli A.
        • Lengauer C.
        • et al.
        Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status.
        Nature. 2002; 418: 934
        • Kerr S.E.
        • Thomas C.B.
        • Thibodeau S.N.
        • et al.
        APC germline mutations in individuals being evaluated for familial adenomatous polyposis. A review of the Mayo Clinic experience with 1591 consecutive tests.
        J Mol Diagn. 2013; 15: 31-43
        • Smyrk T.C.
        • Watson P.
        • Kaul K.
        • et al.
        Tumor-infiltrating lymphocytes are a marker for microsatellite instability in colorectal carcinoma.
        Cancer. 2001; 91: 2417-2422
        • Güller U.
        • Zettl A.
        • Worni M.
        • et al.
        Molecular investigation of lymph nodes in colon cancer patients using one-step nucleic acid amplification (OSNA).
        Cancer. 2012; 118: 6039-6045
        • Kuebler J.P.
        • Wieand H.S.
        • O'Connell M.J.
        • et al.
        Oxaliplatin combined with weekly bolus fluorouracil and leucovorin as surgical adjuvant chemotherapy for stage II and III colon cancer: results from NSABP C-07.
        J Clin Oncol. 2007; 25: 2198-2204
        • Davies H.
        • Bignell G.R.
        • Cox C.
        • et al.
        Mutations of the BRAF gene in human cancer.
        Nature. 2002; 417: 949-954
        • Toyota M.
        • Ahuja N.
        • Ohe-Toyota M.
        • et al.
        CpG island methylator phenotype in colorectal cancer.
        Proc Natl Acad Sci U S A. 1999; 96: 8681-8686
        • Weisenberger D.J.
        • Siegmund K.D.
        • Campan M.
        • et al.
        CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer.
        Nat Genet. 2006; 38: 787-793
        • Funkhouser Jr., W.K.
        • Lubin I.M.
        • Monzon F.A.
        • et al.
        Relevance, pathogenesis, and testing algorithm for mismatch repair-defective colorectal carcinomas. A report of the Association for Molecular Pathology.
        J Mol Diagn. 2012; 14: 91-103
        • Marcus V.A.
        • Madlensky L.
        • Gryfe R.
        • et al.
        Immunohistochemistry for hMLH1 and hMSH2: a practical test for DNA mismatch repair-deficient tumors.
        Am J Surg Pathol. 1999; 23: 1248-1255
        • Ribic C.M.
        • Sargent D.J.
        • Moore M.J.
        • et al.
        Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer.
        N Engl J Med. 2003; 249: 247-257
        • Popovici V.
        • Budinska E.
        • Tejpar S.
        • et al.
        Identification of a poor-prognosis BRAF-mutant–like population of patients with colon cancer.
        J Clin Oncol. 2012; 20: 1288-1295
      2. QUASAR: a randomized study of adjuvant chemotherapy (CT) vs observation including 3238 colorectal cancer patients.
        Journal of Clinical Oncology, 2004 ASCO Annual Meeting Proceedings (Post-Meeting Edition). 2004; 22: 3501
        • Sargent D.J.
        • Marsoni S.
        • Monges G.
        • et al.
        Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer.
        J Clin Oncol. 2010; 28: 3219-3226
        • Stack E.
        • Dubois R.N.
        Role of cyclooxygenase inhibitors for the prevention of colorectal cancer.
        Gastroenterol Clin North Am. 2001; 30: 1001-1010
        • Thibodeau S.N.
        • French A.J.
        • Roche P.C.
        • et al.
        Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes.
        Cancer Res. 1996; 56: 4836-4840
        • Shen L.
        • Toyota M.
        • Kondo Y.
        • et al.
        Integrated genetic and epigenetic analysis identifies three different subclasses of colon cancer.
        Proc Natl Acad Sci U S A. 2007; 104: 18654-18659
        • Stefanius K.
        • Ylitalo L.
        • Tuomisto A.
        • et al.
        Frequent mutations of KRAS in addition to BRAF in colorectal serrated adenocarcinoma.
        Histopathology. 2011; 58: 679-692
        • Loupakis F.
        • Ruzzo A.
        • Cremolini C.
        • et al.
        KRAS codon 61, 146 and BRAF mutations predict resistance to cetuximab plus irinotecan in kras codon 12 and 13 wild-type metastatic colon cancer.
        Br J Cancer. 2009; 101: 715-721
        • Spring K.J.
        • Zhao Z.Z.
        • Karamatic R.R.
        High prevalence of sessile serrated adenomas with BRAF mutations: a prospective study of patients undergoing colonoscopy.
        Gastroenterology. 2006; 131: 1400-1407
        • Amado R.G.
        • Wolf M.
        • Peeters M.
        • et al.
        Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer.
        J Clin Oncol. 2008; 26: 1626-1634
        • Lievre A.
        • Bachet J.B.
        • Boige V.
        • et al.
        KRAS mutations as an independent prognostic factor in patients with advanced colorectal cancer treated with cetuximab.
        J Clin Oncol. 2008; 26: 374-379
        • Wijesuriya R.E.
        • Deen K.I.
        • Hewavisenthi J.
        • et al.
        Neoadjuvant therapy for rectal cancer down-stages the tumor but reduces lymph node harvest significantly.
        Surg Today. 2005; 35: 442-445
        • Lindor N.M.
        • Burgart L.J.
        • Leontovich O.
        • et al.
        Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors.
        J Clin Oncol. 2002; 20: 1043-1048
        • Lagerstedt Robinson K.
        • Liu T.
        • Vandrovcova J.
        • et al.
        Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
        J Natl Cancer Inst. 2007; 99: 291-299
        • Mejia A.
        • Schulz S.
        • Hyslop T.
        • et al.
        Molecular staging individualizing cancer management.
        J Surg Oncol. 2012; 105: 468-474
        • Miller S.
        • Steele S.
        Novel molecular screening approaches in colorectal cancer.
        J Surg Oncol. 2012; 105: 459-467
        • O'Connell M.J.
        • Laurie J.A.
        • Kahn M.
        • et al.
        Prospectively randomized trial of postoperative adjuvant chemotherapy in patients with high risk colon cancer.
        J Clin Oncol. 1998; 16: 295-300
        • Gunal A.
        • Hui P.
        • Kilic S.
        • et al.
        KRAS mutations are associated with specific morphologic features in colon cancer.
        J Clin Gastroenterol. 2013; 47: 509-514
        • Javle M.
        • Hsueh C.T.
        Updates in gastrointestinal oncology–insights from the 2008 44th annual meeting of the American Society of Clinical Oncology.
        J Hematol Oncol. 2009; 2: 9
        • Rizzo S.
        • Bronte G.
        • Fanale D.
        • et al.
        Prognostic vs predictive molecular biomarkers in colorectal cancer: is KRAS and BRAF wild type status required for anti-EGFR therapy?.
        Cancer Treat Rev. 2010; 36: S56-S61https://doi.org/10.1016/S0305-7372(10)70021-9
        • Andreyev H.J.
        • Norman A.R.
        • Cunningham D.
        • et al.
        Kirsten ras mutations in patients with colorectal cancer: the “RASCAL II” study.
        Br J Cancer. 2001; 85: 692-696
        • Keller J.W.
        • Franklin J.L.
        • Graves-Deal R.
        • et al.
        Oncogenic KRAS provides a uniquely powerful and variable oncogenic contribution among RAS family members in the colonic epithelium.
        J Cell Physiol. 2007; 210: 740-749
        • American Cancer Society
        Cancer facts & figures 2013.
        American Cancer Society, Atlanta (GA)2013 (Available at:)
        • Di Nicolantonio F.
        • Martini M.
        • Molinari F.
        • et al.
        Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer.
        J Clin Oncol. 2008; 26: 5705-5712
        • Chan T.A.
        Nonsteroidal anti-inflammatory drugs, apoptosis, and colon-cancer chemoprevention.
        Lancet Oncol. 2002; 3: 166-174
        • Gwyn K.
        • Sinicrope F.A.
        Chemoprevention of colorectal cancer.
        Am J Gastroenterol. 2002; 97: 13-21
        • Tebbutt N.C.
        • Cattell E.
        • Midgley R.
        • et al.
        Systemic treatment of colorectal cancer.
        Eur J Cancer. 2002; 38: 1000-1015
        • Wolpin B.M.
        • Meyerhardt J.A.
        • Mamon H.J.
        • et al.
        Adjuvant treatment of colorectal cancer.
        CA Cancer J Clin. 2007; 57: 168-185
        • Menéndez P.
        • Villarejo P.
        • Padilla D.
        • et al.
        Diagnostic and prognostic significance of serum MicroRNAs in colorectal cancer.
        J Surg Oncol. 2013; 107: 217-220
        • Wang R.
        • Löhr C.V.
        • Fischer K.
        • et al.
        Epigenetic inactivation of endothelin-2 and endothelin-3 in colon cancer.
        Int J Cancer. 2012; 132: 1004-1012