Mutations by Next Generation Sequencing in Stool DNA from Colorectal Carcinoma Patients - A Literature Review and our Experience with this Methodology
Keywords:Mutation, DNA, Stool specimen, Colorectal carcinoma, Next generation sequencing.
It is well-known that colorectal carcinoma is a disease involving multistep carcinogenesis (hyperplasia-adenoma-carcinoma-metastasizing carcinoma). It is also a disease where therapeutically important driver mutations (especially in the EGFR signaling pathway) have been identified. Since genetic mutations can serve as good diagnostic and predictive markers, their reliable detection in the early stages of the disease and also in the follow-up of treatment efficacy is crucial. There is a fundamental problem encountered with the commonly used formalin-fixed paraffin-embedded (FFPE) specimens from biopsied tumor tissue i.e. it is unlikely that the material for the mutation analysis will be available in either the early stage of the disease or during the treatment period. Therefore recently attempts have been made to identify reliable markers from plasma/serum or from stool specimens. In particular, non-invasive stool specimens have been speculated to represent the situation of ongoing tumorigenesis and thus they can be used to assess treatment efficacy in the follow-upof the patient.
The key aims of this paper are firstly, to review the key methodological points when studying genomic alterations in DNA extracted from cells in stool specimens, and secondly, to review results related to biomarker screening and their therapeutic importance. A further aim is to present our new findings by focusing on the issues inherent in Next Generation Sequencing of stool specimens from patients with gastrointestinal tumors. Even though the focus of our paper is human genomic alterations in stool specimens, in our future aspects chapter, we also deal with the bacterial spectrum and its possible interaction with the genomic mutations.
Surveillance, Epidemiology and End Results (SEER) Program [homepage on the Internet]. Available from www.seer.cancer.gov. Stat Database: Incidence-SEER 17. Nov 2006 Sub (1973-2004).
Edge SB, Byrd DR, Compton CC, Fritz AG, Greene FL, Trotti A. AJCC cancer staging manual (7th ed), Eds. New York, NY: Springer 2010; p. 143.
Siegel R, Naishadham D, Jemal A. Cancer statistics. CA Cancer J Clin 2012; 62(1): 10-29. http://dx.doi.org/10.3322/caac.20138
Bleiberg H. Role of chemotherapy for advanced colorrectal cancer. New oportunities. Semin Oncol 1996; 23(1 Suppl 3): 42-50.
De Gramont A, Vignoud J, Tournigand C, Louvet C, André T, Varette C, et al. Oxaliplatin with high-dose leucovorin and 5- fluorouracil 48-hours continuous infusion in preatreated metastatic colorrectal cancer. Eur J Cancer 1997; 33(2): 214-9. http://dx.doi.org/10.1016/S0959-8049(96)00370-X
Ferrara N. Role of vascular endothelial growth factor in regulation of physiological angiogenesis. Am J Physiol Cell Physiol 2001; 280(6): C1358-66.
Ferrara N, Gerber HP, LeCouter J. The biology of VEGF and its receptors. Nat Med 2003; 9(6): 669-76. http://dx.doi.org/10.1038/nm0603-669
Jain RK. Normalizing tumor vasculature with anti-angiogenic therapy: a new paradigm for combination therapy. Nat Med 2001; 7(9): 987-9. http://dx.doi.org/10.1038/nm0901-987
Kabbinavar FF, Hambleton J, Mass RD, Hurwitz HI, Bergsland E, Sarkar S. Combined analysis of efficacy: the addition of bevacizumab to fluorouracil/leucovorin improves survival for patients with metastatic colorectal cancer. J Clin Oncol 2005; 23(16): 3706-12. http://dx.doi.org/10.1200/JCO.2005.00.232
Hurwitz H, Fehrenbacher L, Novotny W, Cartwright T, Hainsworth J, Heim W, et al. Bevacizumab plus irinotecan, fluorouracil, and leucovorin for metastatic colorectal cancer. N Engl J Med 2004; 350(23): 2335-42. http://dx.doi.org/10.1056/NEJMoa032691
Giantonio BJ, Catalano PJ, Meropol NJ, O'Dwyer PJ, Mitchell EP, Alberts SR, et al. Bevacizumab in combination with oxaliplatin, fluorouracil, and leucovorin (FOLFOX4) for previously treated metastatic colorectal cancer: results from the Eastern Cooperative Oncology Group Study E3200. J Clin Oncol 2007; 25(12): 1539-44. http://dx.doi.org/10.1200/JCO.2006.09.6305
Saltz L, Clarke S, Diaz-Rubio E, Scheithauer W, Figer A, Wong R, et al. Bevacizumab in combination with oxaliplatinbased chemotherapy as first-line therapy in metastatic colorectal cancer: a randomized phase III study. J Clin Oncol 2008; 26(12): 2013-9. http://dx.doi.org/10.1200/JCO.2007.14.9930
Kuo LJ, Leu SY, Liu MC, Jian JJ, Hongiun Chen S, Chen CM. How aggressive should we be in patients with stage IV colorectal cancer? Dis Colon Rectum 2003; 46(12): 1646-1652. http://dx.doi.org/10.1007/BF02660770
Shah SA, Haddad R, Al-Sukhni W, Kim RD, Greig PD, Grant DR, et al. Surgical resection of hepatic and pulmonary metastases from colorectal carcinoma. J Am Coll Surg 2006; 202(3): 468-75. http://dx.doi.org/10.1016/j.jamcollsurg.2005.11.008
Leichman L. The role of chemotherapy in the curative treatment of patients with liver metastases from colorectal cancer. Surg Oncol Clin N Am 2007; 16: 537-556. http://dx.doi.org/10.1016/j.soc.2007.04.003
Shepherd NA, Baxter KJ, Love SB. The prognostic importance of peritoneal involvement in colonic cancer: a prospective evaluation. Gastroenterology 1997; 112: 1096-1102. http://dx.doi.org/10.1016/S0016-5085(97)70119-7
Eker B, Ozaslan E, Karaca H, Berk V, Bozhurt O, Inanc M, et al. Factors affecting prognosis in metastatic colorectal cancer patients. Asian Pac J Cancer Prev 2015; 16: 3015-21. http://dx.doi.org/10.7314/APJCP.2015.16.7.3015
Miyamoto Y, Hayashi N, Sakamoto Y, Ohuchi M, Tokunagam R, Kurashige J, et al. Predictors of long-term survival in patients with stage IV colorectal cancer with multi-organ metastases: a single center retrspective analysis. Int J Clin Oncol 2015; published online.
Yun HR, Lee WY, Lee WS, Cho YB, Yun SH, Chun HK. The prognostic factors of stage IV colorectal cancer and assessment of proper treatment according to the patient’s status. Int J Colorectal Dis 2007; 22(11): 1301-1310. http://dx.doi.org/10.1007/s00384-007-0315-x
Mijamoto Y, Hayashi N, Sakamoto Y, Oushi M, Tokunagam R, Kurashige J. Predctors of long-term survival in patients with stage IV colorrectal cancer with multi-organ metastases: a single-center retrospective análisis. Int J Clin Oncol published online: 07 May 2015.
Chua TC, Saxena A, Liauw W, Chu F, Morris DL. Hepatectomy and resection of concomitant extrahepatic disease for colorectal liver metastases—a systematic review. Eur J Cancer 2012; 48(12): 1757-1765. http://dx.doi.org/10.1016/j.ejca.2011.10.034
Chu DZ, Lang NP, Thompson C, Osteen PK, Westbrook KC. Peritoneal carcinomatosis in nongynecologic malignancy. A prospective study of prognostic factors. Cancer 1989; 63: 364-367. http://dx.doi.org/10.1002/1097-0142(19890115)63:2<364::AID-CNCR2820630228>3.0.CO;2-V
Jimenez-Perez J, Caellas J, Garcia-Cano J, Vandervoort J, García Escribano OR, Barcenilla J, et al. Colonic Stenting as a bridge to surgery in malignant large-bowel obstruction: a report from two large multinational restries. Am J Gastroenterol 2011; 106: 2174-2180. http://dx.doi.org/10.1038/ajg.2011.360
Haslinger M. Francescutti V, Attwood K, McCart JA, Fakih M, Kane JM 3rd, et al. A contemporany análisis of morbidity and outcomes in cytoredution/hyperthermic intraperitoneal chemoperfusion. Cancer Medicine 2013; 2: 334-342.
Verwaal VJ, van Ruth S, de Bree E, van Sloothen GW, van Tinteren H, Boot H, et al. Randomized trial of cytoreduction and hyperthermic intraperitoneal chemotherapy versus systemic chemotherapy and pallliative surgery in patietns with peritoneal carcinomatosis of colorrectal cancer. J Clin Oncol 2003; 21: 3737-3743. http://dx.doi.org/10.1200/JCO.2003.04.187