High frequency of KRAS mutation in early onset colorectal adenocarcinoma: implications for pathogenesis

Human Pathology

Volumn 56, Issue , 2016, Pages 163-170

  Watson, Rao ^a,b   Liu, Ta Chiang ^a   Ruzinova, Marianna B ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

Colorectal cancer; Genetics; PCR; Pyrosequencing; Sporadic; Stage

Indexed keywords

K RAS PROTEIN; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; KRAS PROTEIN, HUMAN; PROTEIN P21; TUMOR MARKER;

ADENOMATOUS POLYP; ADULT; ADVANCED CANCER; ARTICLE; CANCER STAGING; CANCER SURVIVAL; COLORECTAL CARCINOMA; FAMILIAL COLON POLYPOSIS; FEMALE; GENE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MISMATCH REPAIR; MUCINOUS; ONSET AGE; OVERALL SURVIVAL; PATHOGENESIS; POLYMERASE CHAIN REACTION; PREVALENCE; SIGNET RING CARCINOMA; TUBULOVILLOUS ADENOMA; ADENOCARCINOMA; ADOLESCENT; CANCER GRADING; CANCER REGISTRY; CELL TRANSFORMATION; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; MORTALITY; MUTATION; PATHOLOGY; PHENOTYPE; RISK FACTOR; SURVIVAL ANALYSIS; UNITED STATES; YOUNG ADULT;

ADENOCARCINOMA; ADOLESCENT; ADULT; AGE OF ONSET; BIOMARKERS, TUMOR; CELL TRANSFORMATION, NEOPLASTIC; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; NEOPLASM GRADING; NEOPLASM STAGING; PHENOTYPE; PROTO-ONCOGENE PROTEINS P21(RAS); RISK FACTORS; SEER PROGRAM; SURVIVAL ANALYSIS; UNITED STATES; YOUNG ADULT;

EID: 84981226129     PISSN: 00468177     EISSN: 15328392     Source Type: Journal    
DOI: 10.1016/j.humpath.2016.06.010     Document Type: Article

References (35)

1. [1] Edwards, BK, Noone, AM, Mariotto, AB, et al. Annual report to the nation on the status of cancer, 1975-2010, featuring prevalence of comorbidity and impact on survival among persons with lung, colorectal, breast, or prostate cancer. Cancer 120 (2014), 1290–1314.
2. [2] O'Connell, JB, Maggard, MA, Liu, JH, Etzioni, DA, Livingston, EH, Ko, CY, Rates of colon and rectal cancers are increasing in young adults. Am Surg 69 (2003), 866–872.
3. [3] Meyer, JE, Narang, T, Schnoll-Sussman, FH, Pochapin, MB, Christos, PJ, Sherr, DL, Increasing incidence of rectal cancer in patients aged younger than 40 years: an analysis of the surveillance, epidemiology, and end results database. Cancer 116 (2010), 4354–4359.
4. [4] Siegel, RL, Jemal, A, Ward, EM, Increase in incidence of colorectal cancer among young men and women in the United States. Cancer Epidemiol Biomarkers Prev 18 (2009), 1695–1698.
5. [5] Yantiss, RK, Goodarzi, M, Zhou, XK, et al. Clinical, pathologic, and molecular features of early-onset colorectal carcinoma. Am J Surg Pathol 33 (2009), 572–582.
6. [6] Hampel, H, Frankel, WL, Martin, E, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 352 (2005), 1851–1860.
7. [7] Goel, A, Nagasaka, T, Spiegel, J, Meyer, R, Lichliter, WE, Boland, CR, Low frequency of Lynch syndrome among young patients with non-familial colorectal cancer. Clin Gastroenterol Hepatol 8 (2010), 966–971.
8. [8] Stigliano, V, Sanchez-Mete, L, Martayan, A, et al. Early-onset colorectal cancer patients without family history are “at very low risk” for Lynch syndrome. J Exp Clin Cancer Res, 33, 2014, 1.
9. [9] Southey, MC, Jenkins, MA, Mead, L, et al. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J Clin Oncol 23 (2005), 6524–6532.
10. [10] Cancer Genome Atlas, Network, Comprehensive molecular characterization of human colon and rectal cancer. Nature 487 (2012), 330–337.
11. [11] Karapetis, CS, Khambata-Ford, S, Jonker, DJ, et al. K-ras mutations and benefit from cetuximab in advanced colorectal cancer. N Engl J Med 359 (2008), 1757–1765.
12. [12] Laurent-Puig, P, Cayre, A, Manceau, G, et al. Analysis of PTEN, BRAF, and EGFR status in determining benefit from cetuximab therapy in wild-type KRAS metastatic colon cancer. J Clin Oncol 27 (2009), 5924–5930.
13. [13] Siddiqui, AD, Piperdi, B, KRAS mutation in colon cancer: a marker of resistance to EGFR-I therapy. Ann Surg Oncol 17 (2010), 1168–1176.
14. [14] Chang, DT, Pai, RK, Rybicki, LA, et al. Clinicopathologic and molecular features of sporadic early-onset colorectal adenocarcinoma: an adenocarcinoma with frequent signet ring cell differentiation, rectal and sigmoid involvement, and adverse morphologic features. Mod Pathol 25 (2012), 1128–1139.
15. [15] Alsop, K, Mead, L, Smith, LD, et al. Low somatic K-ras mutation frequency in colorectal cancer diagnosed under the age of 45 years. Eur J Cancer 42 (2006), 1357–1361.
16. [16] Samowitz, WS, Curtin, K, Schaffer, D, Robertson, M, Leppert, M, Slattery, ML, Relationship of K-ras mutations in colon cancers to tumor location, stage, and survival: a population-based study. Cancer Epidemiol Biomarkers Prev 9 (2000), 1193–1197.
17. [17] Hamilton, SR, Bosman, FT, Boffetta, P, Ilyas, M, Morreau, H, Carcinoma of colon and rectum. Bosman, F.T., Carneiro, F., Hruban, R.H., Theise, N.D., (eds.) WHO classification of tumors of the digestive system, 2010, IARC, Lyon, 131–182.
18. [18] Umar, A, Boland, CR, Terdiman, JP, et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96 (2004), 261–268.
19. [19] Perez-Carbonell, L, Ruiz-Ponte, C, Guarinos, C, et al. Comparison between universal molecular screening for lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. Gut 61 (2012), 865–872.
20. [20] Surveillance, epidemiology, and end results (SEER) program (www.Seer.Cancer.Gov) research data (1973-2013). National Cancer Institute, DCCPS, Surveillance Research Program, Surveillance Systems Branch.
21. [21] 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 27 (2009), 2091–2096.
22. [22] Harris, TJ, McCormick, F, The molecular pathology of cancer. Nat Rev Clin Oncol 7 (2010), 251–265.
23. [23] Gonsalves, WI, Mahoney, MR, Sargent, DJ, et al. Patient and tumor characteristics and BRAF and KRAS mutations in colon cancer, NCCTG/alliance N0147. J Natl Cancer Inst, 106, 2014.
24. [24] Phipps, AI, Limburg, PJ, Baron, JA, et al. Association between molecular subtypes of colorectal cancer and patient survival. Gastroenterology 148 (2015), 77–87 [e2].
25. [25] Yoon, HH, Shi, Q, Alberts, SR, et al. Racial differences in BRAF/KRAS mutation rates and survival in stage III Colon cancer patients. J Natl Cancer Inst, 107, 2015.
26. [26] Ciardiello, F, Tejpar, S, Normanno, N, et al. Uptake of KRAS mutation testing in patients with metastatic colorectal cancer in Europe, Latin America and Asia. Target Oncol 6 (2011), 133–145.
27. [27] Bodo, S, Colas, C, Buhard, O, et al. Diagnosis of constitutional mismatch repair-deficiency syndrome based on microsatellite instability and lymphocyte tolerance to Methylating agents. Gastroenterology 149 (2015), 1017–1029 [e3].
28. [28] Ogino, S, Kawasaki, T, Brahmandam, M, et al. Sensitive sequencing method for KRAS mutation detection by pyrosequencing. J Mol Diagn 7 (2005), 413–421.
29. [29] Pinto, P, Rocha, P, Veiga, I, et al. Comparison of methodologies for KRAS mutation detection in metastatic colorectal cancer. Cancer Genet 204 (2011), 439–446.
30. [30] Sinicrope, FA, Shi, Q, Smyrk, TC, et al. Molecular markers identify subtypes of stage III colon cancer associated with patient outcomes. Gastroenterology 148 (2015), 88–99.
31. [31] Sinicrope, FA, Mahoney, MR, Smyrk, TC, et al. Prognostic impact of deficient DNA mismatch repair in patients with stage III colon cancer from a randomized trial of FOLFOX-based adjuvant chemotherapy. J Clin Oncol 31 (2013), 3664–3672.
32. [32] Mouradov, D, Domingo, E, Gibbs, P, et al. Survival in stage II/III colorectal cancer is independently predicted by chromosomal and microsatellite instability, but not by specific driver mutations. Am J Gastroenterol 108 (2013), 1785–1793.
33. [33] Ren, J, Li, G, Ge, J, Li, X, Zhao, Y, Is K-ras gene mutation a prognostic factor for colorectal cancer: a systematic review and meta-analysis. Dis Colon Rectum 55 (2012), 913–923.
34. [34] Irahara, N, Baba, Y, Nosho, K, et al. NRAS mutations are rare in colorectal cancer. Diagn Mol Pathol 19 (2010), 157–163.
35. [35] Giraldez, MD, Lopez-Doriga, A, Bujanda, L, et al. Susceptibility genetic variants associated with early-onset colorectal cancer. Carcinogenesis 33 (2012), 613–619.