The utility of diagnostic biopsy specimens for predictive molecular testing in colorectal cancer

Histopathology

Volumn 61, Issue 6, 2012, Pages 1117-1124

  Fadhil, Wakkas ^a   Ibrahem, Salih ^a   Seth, Rashmi ^b   Abuali, Ghada ^c   Ragunath, Krishna ^d   Kaye, Philip ^b,d   Ilyas, Mohammad ^a,b,d  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^b QUEEN S MEDICAL CENTRE   (United Kingdom)

^c IMPERIAL COLLEGE LONDON   (United Kingdom)

^d NIHR NOTTINGHAM BIOMEDICAL RESEARCH CENTRE   (United Kingdom)

Author keywords

Colorectal cancer; HRM; Neoadjuvant; PCR; Predictive testing

Indexed keywords

B RAF KINASE; DNA; K RAS PROTEIN; MEMBRANE PROTEIN; PIK3CA PROTEIN; PROTEIN P53; UNCLASSIFIED DRUG;

ARTICLE; CANCER DIAGNOSIS; CHROMOSOMAL INSTABILITY; CLINICAL ARTICLE; CODON; COLORECTAL CANCER; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DNA EXTRACTION; EXON; GENE MUTATION; HUMAN; HUMAN TISSUE; MICROSATELLITE INSTABILITY; MOLECULAR DIAGNOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TUMOR BIOPSY;

ADENOCARCINOMA; BIOPSY; COLORECTAL NEOPLASMS; EARLY DETECTION OF CANCER; GENETIC TESTING; HUMANS; MICROSATELLITE INSTABILITY; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; PHOSPHATIDYLINOSITOL 3-KINASES; PREDICTIVE VALUE OF TESTS; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; RAS PROTEINS; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84870393673     PISSN: 03090167     EISSN: 13652559     Source Type: Journal    
DOI: 10.1111/j.1365-2559.2012.04321.x     Document Type: Article

References (36)

1. CR-UK. Bowel cancer statistics-UK. 2012 [updated 2012; cited]. Available from: http://info.cancerresearchuk.org/cancerstats/types/bowel/.
2. Parsons DW, Wang TL, Samuels Y et al. Colorectal cancer: mutations in a signalling pathway. Nature 2005; 436; 792. (this paper is only 1 page in length).
3. De Roock W, Piessevaux H, De Schutter J et al. KRAS wild-type state predicts survival and is associated to early radiological response in metastatic colorectal cancer treated with cetuximab. Ann. Oncol. 2008; 19; 508-515.
4. Van Cutsem E, Kohne CH, Hitre E et al. Cetuximab and chemotherapy as initial treatment for metastatic colorectal cancer. N. Engl. J. Med. 2009; 360; 1408-1417.
5. Allegra CJ, Jessup JM, Somerfield MR et al. American Society of Clinical Oncology provisional clinical opinion: testing for KRAS gene mutations in patients with metastatic colorectal carcinoma to predict response to anti-epidermal growth factor receptor monoclonal antibody therapy. J. Clin. Oncol. 2009; 27; 2091-2096.
6. Dighe S, Swift I, Magill L et al. Accuracy of radiological staging in identifying high-risk colon cancer patients suitable for neoadjuvant chemotherapy: a multicentre experience. Colorectal Dis. 2012; 14(4); 438-444.
7. Giaretti W, Rapallo A, Sciutto A et al. Intratumor heterogeneity of k-ras and p53 mutations among human colorectal adenomas containing early cancer. Anal. Cell. Pathol. 2000; 21; 49-57.
8. Greaves M, Maley CC. Clonal evolution in cancer. Nature 2012; 481; 306-313.
9. Fadhil W, Ibrahem S, Seth R et al. Quick-multiplex-consensus (QMC)-PCR followed by high-resolution melting: a simple and robust method for mutation detection in formalin-fixed paraffin-embedded tissue. J. Clin. Pathol. 2010; 63; 134-140.
10. Seth R, Keeley J, Abu-Ali G et al. The putative tumour modifier gene ATP5A1 is not mutated in human colorectal cancer cell lines but expression levels correlate with TP53 mutations and chromosomal instability. J. Clin. Pathol. 2009; 62; 598-603.
11. Janavicius R, Matiukaite D, Jakubauskas A et al. Microsatellite instability detection by high-resolution melting analysis. Clin. Chem. 2010; 56; 1750-1757.
12. Wittwer CT. High-resolution DNA melting analysis: advancements and limitations. Hum. Mutat. 2009; 30; 857-859.
13. Janku F, Lee JJ, Tsimberidou AM et al. PIK3CA mutations frequently coexist with RAS and BRAF mutations in patients with advanced cancers. PLoS One 2011; 6; e22769.
14. Dhadda AS, Dickinson P, Zaitoun AM et al. Prognostic importance of Mandard tumour regression grade following pre-operative chemo/radiotherapy for locally advanced rectal cancer. Eur. J. Cancer 2011; 47; 1138-1145.
15. Huebner M, Wolff BG, Smyrk TC et al. Partial pathologic response and nodal status as most significant prognostic factors for advanced rectal cancer treated with preoperative chemoradiotherapy. World J. Surg. 2012; 36(3); 675-683.
16. Tsutsumi S, Tabe Y, Fujii T et al. Tumor response and negative distal resection margins of rectal cancer after hyperthermochemoradiation therapy. Anticancer Res. 2011; 31; 3963-3967.
17. Di Fiore F, Blanchard F, Charbonnier F et al. Clinical relevance of KRAS mutation detection in metastatic colorectal cancer treated by Cetuximab plus chemotherapy. Br. J. Cancer 2007; 96; 1166-1169.
18. Oden-Gangloff A, Di Fiore F, Bibeau F et al. TP53 mutations predict disease control in metastatic colorectal cancer treated with cetuximab-based chemotherapy. Br. J. Cancer 2009; 100; 1330-1335.
19. Bertagnolli MM, Niedzwiecki D, Compton CC et al. Microsatellite instability predicts improved response to adjuvant therapy with irinotecan, fluorouracil, and leucovorin in stage III colon cancer: Cancer and Leukemia Group B Protocol 89803. J. Clin. Oncol. 2009; 27; 1814-1821.
20. Sargent DJ, 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.
21. Sinicrope FA, Foster NR, Thibodeau SN et al. DNA mismatch repair status and colon cancer recurrence and survival in clinical trials of 5-fluorouracil-based adjuvant therapy. J. Natl Cancer Inst. 2011; 103; 863-875.
22. Fearon ER. Molecular genetics of colorectal cancer. Annu. Rev. Pathol. 2010; 6; 479-507.
23. Ilyas M, Straub J, Tomlinson IP et al. Genetic pathways in colorectal and other cancers. Eur. J. Cancer 1999; 35; 1986-2002.
24. Fadhil W, Ilyas M. Immunostaining for mismatch repair (MMR) protein expression in colorectal cancer is better and easier to interpret when performed on diagnostic biopsies. Histopathology 2011; 60; 653-655.
25. Shia J, Stadler Z, Weiser MR et al. Immunohistochemical staining for DNA mismatch repair proteins in intestinal tract carcinoma: how reliable are biopsy samples?Am. J. Surg. Pathol. 2011; 35; 447-454.
26. Cejas P, Lopez-Gomez M, Aguayo C et al. KRAS mutations in primary colorectal cancer tumors and related metastases: a potential role in prediction of lung metastasis. PLoS One 2009; 4; e8199.
27. Italiano A, Hostein I, Soubeyran I et al. KRAS and BRAF mutational status in primary colorectal tumors and related metastatic sites: biological and clinical implications. Ann. Surg. Oncol. 2010; 17; 1429-1434.
28. Knijn N, Mekenkamp LJ, Klomp M et al. KRAS mutation analysis: a comparison between primary tumours and matched liver metastases in 305 colorectal cancer patients. Br. J. Cancer 2011; 104; 1020-1026.
29. Santini D, Loupakis F, Vincenzi B et al. High concordance of KRAS status between primary colorectal tumors and related metastatic sites: implications for clinical practice. Oncologist 2008; 13; 1270-1275.
30. Bozic I, Antal T, Ohtsuki H et al. Accumulation of driver and passenger mutations during tumor progression. Proc. Natl Acad. Sci. USA 2010; 107; 18545-18550.
31. Jones S, Chen WD, Parmigiani G et al. Comparative lesion sequencing provides insights into tumor evolution. Proc. Natl Acad. Sci. USA 2008; 105; 4283-4288.
32. Baisse B, Bouzourene H, Saraga EP et al. Intratumor genetic heterogeneity in advanced human colorectal adenocarcinoma. Int. J. Cancer 2001; 93; 346-352.
33. Baldus SE, Schaefer KL, Engers R et al. Prevalence and heterogeneity of KRAS, BRAF, and PIK3CA mutations in primary colorectal adenocarcinomas and their corresponding metastases. Clin. Cancer Res. 2010; 16; 790-799.
34. Goranova TE, Ohue M, Shimoharu Y et al. Dynamics of cancer cell subpopulations in primary and metastatic colorectal tumors. Clin. Exp. Metastasis 2011; 28; 427-435.
35. Ibrahem S, Seth R, O'Sullivan B et al. Comparative analysis of pyrosequencing and QMC-PCR in conjunction with high resolution melting for KRAS/BRAF mutation detection. Int. J. Exp. Pathol. 2011; 91; 500-505.
36. Yun J, Rago C, Cheong I et al. Glucose deprivation contributes to the development of KRAS pathway mutations in tumor cells. Science 2009; 325; 1555-1559.