KRAS and BRAF mutation analysis in colorectal adenocarcinoma specimens with a low percentage of tumor cells

Molecular Diagnosis and Therapy

Volumn 17, Issue 3, 2013, Pages 193-203

  Lewandowska, Marzena Anna ^a   Jóåwicki, Wojciech ^a,b   Żurawski, Bogdan ^b  

^a NICOLAUS COPERNICUS UNIVERSITY   (Poland)

^b Regional Oncology Centre Bydgoszcz   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; CETUXIMAB; DNA; K RAS PROTEIN; PANITUMUMAB;

ARTICLE; CANCER PROGNOSIS; CODON; COLORECTAL CARCINOMA; CONTROLLED STUDY; DRUG RESPONSE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MUTATIONAL ANALYSIS; PHARMACOGENETICS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOMATIC MUTATION;

EID: 84878581633     PISSN: 11771062     EISSN: 11792000     Source Type: Journal    
DOI: 10.1007/s40291-013-0025-8     Document Type: Article

References (29)

1. Der CJ, Krontiris TG, Cooper GM. Transforming genes of human bladder and lung carcinoma cell lines are homologous to the ras genes of Harvey and Kirsten sarcoma viruses. Proc Natl Acad Sci USA. 1982;79(11):3637-40.
2. Kranenburg O. The KRAS oncogene: past, present, and future. Biochimica et biophysica acta. 2005;1756(2):81-2. doi: 10.1016/j.bbcan.2005.10.001.
3. Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell. 1990;61(5):759-67.
4. Haigis KM, Kendall KR, Wang Y, Cheung A, Haigis MC, Glickman JN, Niwa-Kawakita M, Sweet-Cordero A, Sebolt-Leopold J, Shannon KM, Settleman J, Giovannini M, Jacks T. Differential effects of oncogenic K-Ras and N-Ras on proliferation, differentiation and tumor progression in the colon. Nat Genet. 2008;40(5):600-8. doi: 10.1038/ng.115.
5. Yun J, Rago C, Cheong I, Pagliarini R, Angenendt P, Rajagopalan H, Schmidt K, Willson JK, Markowitz S, Zhou S, Diaz LA Jr, Velculescu VE, Lengauer C, Kinzler KW, Vogelstein B, Papadopoulos N. Glucose deprivation contributes to the development of KRAS pathway mutations in tumor cells. Science. 2009;325(5947):1555-9. doi: 10.1126/science.1174229.
6. Rodenhuis S, van de Wetering ML, Mooi WJ, Evers SG, van Zandwijk N, Bos JL. Mutational activation of the K-ras oncogene. A possible pathogenetic factor in adenocarcinoma of the lung. N Engl J Med. 1987;317(15):929-35. doi: 10.1056/NEJM198710083171504.
7. Andreyev HJ, Tilsed JV, Cunningham D, Sampson SA, Norman AR, Schneider HJ, Clarke PA. K-ras mutations in patients with early colorectal cancers. Gut. 1997;41(3):323-9.
8. Lee KH, Lee JS, Suh C, Kim SW, Kim SB, Lee JH, Lee MS, Park MY, Sun HS, Kim SH. Clinicopathologic significance of the K-ras gene codon 12 point mutation in stomach cancer. An analysis of 140 cases. Cancer. 1995;75(12):2794-801.
9. Sidransky D, Tokino T, Hamilton SR, Kinzler KW, Levin B, Frost P, Vogelstein B. Identification of ras oncogene mutations in the stool of patients with curable colorectal tumors. Science. 1992;256(5053):102-5.
10. Otori K, Oda Y, Sugiyama K, Hasebe T, Mukai K, Fujii T, Tajiri H, Yoshida S, Fukushima S, Esumi H. High frequency of K-ras mutations in human colorectal hyperplastic polyps. Gut. 1997;40(5):660-3.
11. Rajagopalan H, Bardelli A, Lengauer C, Kinzler KW, Vogelstein B, Velculescu VE. Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. Nature. 2002;418(6901):934. doi: 10.1038/418934a.
12. Namba H, Nakashima M, Hayashi T, Hayashida N, Maeda S, Rogounovitch TI, Ohtsuru A, Saenko VA, Kanematsu T, Yamashita S. Clinical implication of hot spot BRAF mutation, V599E, in papillary thyroid cancers. J Clin Endocrinol Metab. 2003;88(9):4393-7.
13. Solit DB, Garraway LA, Pratilas CA, Sawai A, Getz G, Basso A, Ye Q, Lobo JM, She Y, Osman I, Golub TR, Sebolt-Leopold J, Sellers WR, Rosen N. BRAF mutation predicts sensitivity to MEK inhibition. Nature. 2006;439(7074):358-62. doi: 10.1038/nature04304.
14. Poulikakos PI, Persaud Y, Janakiraman M, Kong X, Ng C, Moriceau G, Shi H, Atefi M, Titz B, Gabay MT, Salton M, Dahlman KB, Tadi M, Wargo JA, Flaherty KT, Kelley MC, Misteli T, Chapman PB, Sosman JA, Graeber TG, Ribas A, Lo RS, Rosen N, Solit DB. RAF inhibitor resistance is mediated by dimerization of aberrantly spliced BRAF(V600E). Nature. 2011;480(7377):387-90. doi: 10.1038/nature10662.
15. van Krieken JH, Jung A, Kirchner T, Carneiro F, Seruca R, Bosman FT, Quirke P, Flejou JF, Plato Hansen T, de Hertogh G, Jares P, Langner C, Hoefler G, Ligtenberg M, Tiniakos D, Tejpar S, Bevilacqua G, Ensari A. KRAS mutation testing for predicting response to anti-EGFR therapy for colorectal carcinoma: proposal for an European quality assurance program. Virchows Arch. 2008;453(5):417-31. doi: 10.1007/s00428-008-0665-y.
16. Flaherty KT, Puzanov I, Kim KB, Ribas A, McArthur GA, Sosman JA, O'Dwyer PJ, Lee RJ, Grippo JF, Nolop K, Chapman PB. Inhibition of mutated, activated BRAF in metastatic melanoma. N Engl J Med. 2010;363(9):809-19. doi: 10.1056/NEJMoa1002011.
17. Loupakis F, Ruzzo A, Cremolini C, Vincenzi B, Salvatore L, Santini D, Masi G, Stasi I, Canestrari E, Rulli E, Floriani I, Bencardino K, Galluccio N, Catalano V, Tonini G, Magnani M, Fontanini G, Basolo F, Falcone A, Graziano F. KRAS codon 61, 146 and BRAF mutations predict resistance to cetuximab plus irinotecan in KRAS codon 12 and 13 wild-type metastatic colorectal cancer. Br J Cancer. 2009;101(4):715-21. doi: 10.1038/sj.bjc.6605177.
18. Di Nicolantonio F, Martini M, Molinari F, Sartore-Bianchi A, Arena S, Saletti P, De Dosso S, Mazzucchelli L, Frattini M, Siena S, Bardelli A. Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J Clin Oncol Off J Am Soc Clin Oncol. 2008;26(35):5705-12. doi: 10.1200/JCO.2008.18.0786.
19. Santini D, Spoto C, Loupakis F, Vincenzi B, Silvestris N, Cremolini C, Canestrari E, Graziano F, Galluccio N, Salvatore L, Caraglia M, Zito FA, Colucci G, Falcone A, Tonini G, Ruzzo A. High concordance of BRAF status between primary colorectal tumours and related metastatic sites: implications for clinical practice. Ann Oncol Off J Eur Soc Med Oncol. 2010;21(7):1565. doi: 10.1093/annonc/mdq318.
20. Krol LC, Hart NA, Methorst N, Knol AJ, Prinsen C, Boers JE. Concordance in KRAS and BRAF mutations in endoscopic biopsy samples and resection specimens of colorectal adenocarcinoma. Eur J Cancer. 2012;48(7):1108-15. doi: 10.1016/j.ejca.2012.02.054.
21. Lewandowska MA, JóÅwicki W, ̇urawski B, Starzyński J, Rhone P. Can we believe in CE-IVD tests for KRAS mutation analysis? Oncology as a challenge for modern medicine. Biała Podlaska: PSW; 2012.
22. Andreyev HJ, Norman AR, Cunningham D, Oates J, Dix BR, Iacopetta BJ, Young J, Walsh T, Ward R, Hawkins N, Beranek M, Jandik P, Benamouzig R, Jullian E, Laurent-Puig P, Olschwang S, Muller O, Hoffmann I, Rabes HM, Zietz C, Troungos C, Valavanis C, Yuen ST, Ho JW, Croke CT, O'Donoghue DP, Giaretti W, Rapallo A, Russo A, Bazan V, Tanaka M, Omura K, Azuma T, Ohkusa T, Fujimori T, Ono Y, Pauly M, Faber C, Glaesener R, de Goeij AF, Arends JW, Andersen SN, Lovig T, Breivik J, Gaudernack G, Clausen OP, De Angelis PD, Meling GI, Rognum TO, Smith R, Goh HS, Font A, Rosell R, Sun XF, Zhang H, Benhattar J, Losi L, Lee JQ, Wang ST, Clarke PA, Bell S, Quirke P, Bubb VJ, Piris J, Cruickshank NR, Morton D, Fox JC, Al-Mulla F, Lees N, Hall CN, Snary D, Wilkinson K, Dillon D, Costa J, Pricolo VE, Finkelstein SD, Thebo JS, Senagore AJ, Halter SA, Wadler S, Malik S, Krtolica K, Urosevic N. Kirsten ras mutations in patients with colorectal cancer: the 'RASCAL II' study. Br J Cancer. 2001;85(5):692-6. doi: 10.1054/bjoc.2001.1964.
23. van Eijk R, Licht J, Schrumpf M, Talebian Yazdi M, Ruano D, Forte GI, Nederlof PM, Veselic M, Rabe KF, Annema JT, Smit V, Morreau H, van Wezel T. Rapid KRAS, EGFR, BRAF and PIK3CA mutation analysis of fine needle aspirates from non-small-cell lung cancer using allele-specific qPCR. PLoS One. 2011;6(3):e17791. doi: 10.1371/journal.pone.0017791.
24. Kim IJ, Park JH, Kang HC, Shin Y, Park HW, Park HR, Ku JL, Lim SB, Park JG. Mutational analysis of BRAF and K-ras in gastric cancers: absence of BRAF mutations in gastric cancers. Hum Genet. 2003;114(1):118-20. doi: 10.1007/s00439-003-1027-0.
25. Sivertsson A, Platz A, Hansson J, Lundeberg J. Pyrosequencing as an alternative to single-strand conformation polymorphism analysis for detection of N-ras mutations in human melanoma metastases. Clin Chem. 2002;48(12):2164-70.
26. Tsiatis AC, Norris-Kirby A, Rich RG, Hafez MJ, Gocke CD, Eshleman JR, Murphy KM. Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: diagnostic and clinical implications. J Mol Diagn. 2010;12(4):425-32. doi: 10.2353/jmoldx.2010.090188.
27. Kwon MJ, Lee SE, Kang SY, Choi YL. Frequency of KRAS, BRAF, and PIK3CA mutations in advanced colorectal cancers: Comparison of peptide nucleic acid-mediated PCR clamping and direct sequencing in formalin-fixed, paraffin-embedded tissue. Pathol Res Pract. 2011;207(12):762-8. doi: 10.1016/j.prp.2011.10.002.
28. Kotoula V, Charalambous E, Biesmans B, Malousi A, Vrettou E, Fountzilas G, Karkavelas G. Targeted KRAS mutation assessment on patient tumor histologic material in real time diagnostics. PLoS One. 2009;4(11):e7746. doi: 10.1371/journal.pone.0007746.
29. Lewandowska MA, JóÅwicki W, Starzynski J, Kowalewski J. Analysis of EGFR mutation frequency and coexistence of KRAS and EGFR mutations using RT-PCR in lung adenocarcinoma: May a clinical and pathological model of a patient's qualification for targeted therapy have an impact on time to obtain genetic results? Pol J Cardio-Thorac Surg. 2012;9(4):443-51. doi: 10.5114/kitp.2012.32682.