eISSN: 1897-4309
ISSN: 1428-2526
Contemporary Oncology/Współczesna Onkologia
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SCImago Journal & Country Rank
2/2018
vol. 22
 
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abstract:
Review paper

Quality and practical aspects of pathological and molecular diagnostics in metastatic colorectal cancer (mCRC)

Andrzej Tysarowski, Anna Nasierowska-Guttmejer

Contemp Oncol (Pozn) 2018; 22 (2): 75=85
Online publish date: 2018/06/30
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Colorectal cancer (CRC) is one of the most common malignancies worldwide. In recent years novel therapies targeted at EGFR receptor have been developed. However, this treatment can only be beneficial if no mutation in specific loci of KRAS/NRAS and BRAF genes is found in tumour specimen. Therefore, clinically useful pathological diagnosis of CRC in the era of personalised medicine is a multistep procedure, requiring good cooperation between the clinician/surgeon, pathomorphologist, and molecular biologist. Herein we propose the guidelines of colorectal cancer operating material proceedings for clinicians and pathomorphologists, which determines the correct pathomorphological diagnosis, and we discuss the colorectal cancer molecular biology issues useful in the selection of individual molecular targeted therapy. We discuss and stress the importance of each diagnostic phase: from tumour resection and sample collection at preanalytical stage, through proper pathological preparation, evaluation and selection of material for molecular testing, to molecular analysis and finally preparation of a pathological molecular report.
keywords:

colorectal cancer, KRAS, NRAS, BRAF, diagnostic, mCRC

references:
Didkowska J, Wojciechowska U. Cancer in Poland in 2013. Krajowy Rejestr Nowotworów. Centrum Onkologii Instytut im. M. Skłodowskiej-Curie. Warszawa 2015: 48-49.
Cunningham D, Humblet Y, Siena S, et al. Cetuximab monotherapy and cetuximab plus irinotecan in irinotecan-refractory metastatic colorectal cancer. N Engl J Med 2004; 351: 337-345.
Gross ME, Zorbas MA, Danels YJ, et al. Cellular growth response to epidermal growth factor in colon carcinoma cells with an amplified epidermal growth factor receptor derived from a familial adenomatous polyposis patient. Cancer Res 1991; 51: 1452-1459.
Radinsky R, Risin S, Fan D, Dong Z, Bielenberg D, Bucana CD, Fidler IJ. Level and function of epidermal growth factor receptor predict the metastatic potential of human colon carcinoma cells. Clin Cancer Res 1995; 1: 19-31.
Messa C, Russo F, Caruso MG, Di Leo A. EGF, TGF-alpha, and EGF-R in human colorectal adenocarcinoma. Acta Oncol 1998; 37: 285-289.
Kluftinger AM1, Robinson BW, Quenville NF, Finley RJ, Davis NL. Correlation of epidermal growth factor receptor and c-erbB2 oncogene product to known prognostic indicators of colorectal cancer. Surg Oncol 1992; 1: 97-105.
Wojtukiewicz MZ, Sierko E. Leczenie celowane u chorych na raka jelita grubego. Onkol Prakt Klin 2007; 3: 286-297.
Cree IA, Deans S, Ligtenberg MJL, et al. Guidance for laboratories performing molecular pathology for cancer patients. J Clin Pathol 2014; 67: 923-931.
Sluijter CE, van Lonkhuijzen LRCW, Slooten H-J, Nagtegaal ID, Overbeek LIH. The effects of implementing synoptic pathology reporting in cancer diagnosis: a systematic review. Virchows Arch 2016; 468: 639-649.
Jessup JM, Goldberg RM, Asare EA, et al. Colon and Rectum. American Joint Committee on Cancer 2017. MB Amin, et al. (Eds.), AJCC Cancer Staging Manual. 8th ed. Springer, New York: 251-274.
Brierley JD, Gospodarowicz MK, Wittekind C, et al. (Eds.). TNM Classification of Malignant Tumours. 8th ed. Wiley Blackwell, Oxford 2017.
Amin MB, Greene FL, Edge SB, et al. The Eighth Edition AJCC Cancer Staging Manual: Continuing to Build a Bridge From a Population-Based to a More “Personalized” Approach to Cancer Staging. Ca Cancer J Clin 2017; 67: 93-99.
Tysarowski A, Fabisiewicz A, Kolasa I, et al. Walidacja wybranych technik molekularnych oznaczania mutacji w kodonie 12 i 13 genu K-RAS przeprowadzona w pięciu ośrodkach badawczo-naukowych Polski. Onkol Prakt Klin 2008; 4: 232-244.
Schubbert S, Shannon K, Bollag G. Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer 2007; 7: 295-308.
Konstantinopoulos PA, Karamouzis MV, Papavassiliou AG. Post-translational modifications and regulation of the RAS superfamily of GTPases as anticancer target. Nat Rev Drug Discov 2007; 6: 541-555.
Bourne HR, Sanders DA, McCormick F. The GTPase superfamily: conserved structure and molecular mechanism. Nature 1991; 349: 117-127.
Downward J. Ras signalling and apoptosis. Curr Opin Genet Dev 1998; 8: 49-54.
Crespo P, León J. Ras proteins in the control of the cell cycle and cell differentiation. Cell Mol Life Sci 2000; 57: 1613-1636.
Macaluso M, Russo G, Cinti C, Bazan V, Gebbia N, Russo A. Ras family genes: an interesting link between cell cycle and cancer. J Cell Physiol 2002; 192: 125-130.
Ellis CA, Clark G. The importance of being K-Ras. Cell Signal 2000; 12: 425-434.
Capella G, Cronauer-Mitra S, Peinado MA, Perucho M. Frequency and spectrum of mutations at codons 12 and 13 of the c-K-ras gene in human tumors. Environ Health Perspect 1991; 93: 125-131.
Bos JL. Ras oncogenes in human cancer: a review. Cancer Res 1989; 49: 4682-4689.
Bazan V, Migliavacca M, Zanna I, et al. A Specific codon 13 K-RAS mutations are predictive of clinical outcome in colorectal cancer patients, whereas codon 12 K-RAS mutations are associated with mucinous histotype. Ann Oncol 2002; 13: 1438-1446.
Senagore AJ, Biener JT. A newly identified pattern of K-RAS mutations at codons 12 and 13 is associated with long-term survival in colorectal cancer. Surgery 1997; 122: 765-770.
Bartczak M, Sałagacka A, Mirowski M, Balcerczak E. Status genu K-RAS jako czynnik prognostyczny i predykcyjny w raku jelita grubego. Nowotwory. Journal of Oncology 2010; 60: 147-156.
Wang Y, You M, Wang Y. Alternative splicing of the K-ras gene in Mouse tissues and cell lines. Exp Lung Res 2001; 27: 255-267.
Plowman SJ, Berry RL, Bader SA, Luo F, Arends MJ, Harrison DJ, Hooper ML, Patek CE. K-ras 4A and 4B are co-expressed widely in human tissues, and their ratio is altered in sporadic colorectal cancer. J Exp Clin Cancer Res 2006; 25: 259-267.
Garnett MJ, Marais R. Guilty as charged: B-RAF is a human oncogene. Cancer Cell 2004; 6: 313-319.
Davies H, Bignell GR, Cox C. Mutations of the BRAF gene in human cancer. Nature 2002; 417: 949-954.
De Roock W, Claes B, Bernasconi D, et al. Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. Lancet Oncol 2010; 11: 753-762.
Sepulveda AR, Hamilton SR, Allegra CJ, et al. Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology. J Mol Diagn 2017; 19: 187-225.
http://www.mz.gov.pl/leki/refundacja/lista-lekow-refundowa-nych-obwieszczenia-ministra-zdrowia/ (accessed: 27.06.2017).
National Comprehensive Cancer Network (NCCN). Clinical Practice Guidelines in Oncology (NCCN Guidelines). Colon Cancer. Version 2.2016. Available from: www.nccn.org/patients (accessed: February 2017).
Chen G, Yang Z, Eshleman JR, Netto GJ, Lin M-T. Diagnostics for Precision Medicine in Colorectal Cancer: Current Status and Future Perspective. Biomed Res Int 2016; 2016: 9850690.
General report, ESP Colon EQA 2017, European Society of Pathology, date of report: 04.10.2017.
Linardou H, Briasoulis E, Dahabreh IJ, et al. All about KRAS for clinical oncology practice: gene profile, clinical implications and laboratory recommendations for somatic mutational testing in colorectal cancer. Cancer Treat Rev 2011; 37: 221-233.
van Krieken JH, Jung A, Kirchner T, et al. KRAS mutation testing for predicting response to anti-EGFR therapy for colorectal carcinoma: proposal for an European quality assurance program. Virchows Arch 2008; 453: 417-431.
Gulley ML, Braziel RM, Halling KC, et al. Molecular Pathology Resource Committee, College of American Pathologists. Clinical laboratory reports in molecular pathology. Arch Pathol Lab Med 2007; 131: 852-863.
Shackelford RE, Whitling NA, McNab P, Japa S, Coppola D. KRAS Testing: A Tool for the Implementation of Personalized Medicine. Genes Cancer 2012; 3: 459-466.
Biocartis, Idylla specification, www.biocartis.com.
Vidal J, Muinelo L, Dalmases A, et al. Plasma ctDNA RAS mutation analysis for the diagnosis and treatment monitoring of metastatic colorectal cancer patients. Ann Oncol 2017; 28: 1325-1332.
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