结直肠癌(CRC)诊疗中实验室分子诊断进展的最新进展
23 December 2019
Siew-Wai Pang, Noel Jacques Awi, John Seng Hooi Low, Suat Cheng Peh, Sin Yeang Teow
摘要
Colorectal cancer (CRC) continues to be one of the most common cancers globally. The incidence has increased in developing countries in the past few decades, this could be partly attributed to aging populations and unhealthy lifestyles. While the treatment of CRC has seen significant improvement since the advent of target-specific therapies and personalized medicine, CRC is oftentimes detected at late or advanced stages, thereby reducing the efficacy of treatment. Hence, screening for early detection is still the key to combat CRC and to increase overall survival (OS). Considering that the field of medical diagnostics is moving towards molecular diagnostics, CRC can now be effectively screened and diagnosed with high accuracy and sensitivity. Depending on the tumor genotype and genetic profile of the individual, personalized treatments including tyrosine kinase inhibitor therapy and immunotherapy can be administered. Notably, there can be no one single treatment that is effective for all CRC patients due to the variation in tumor genetics, which highlights the importance of molecular diagnostics. This review provides insights on therapeutic modalities, molecular biomarkers, advancement of diagnostic technologies, and current challenges in managing CRC.
参考资料
- Bray, F., Ferlay, J., Soerjomataram, I., Siegel, R. L., Torre, L. A., & Jemal, A. (2018). Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA: A Cancer Journal for Clinicians, 68(6), 394–424.
- Heemskerk-Gerritsen, B. A. M., Rookus, M. A., Aalfs, C. M., Ausems, M. G. E. M., Collée, J. M., Jansen, L., Kets, C. M., Keymeulen, K. B. M. I., Koppert, L. B., Meijers-Heijboer, H. E. J., et al. (2015). Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: A prospective analysis. International Journal of Cancer, 136(3), 668–677.
- Hurwitz, H., Fehrenbacher, L., Novotny, W., Cartwright, T., Hainsworth, J., Heim, W., Berlin, J., Baron, A., Griffing, S., Holmgren, E., et al. (2004). Bevacizumab plus irinotecan, fluorouracil, and leucovorin for metastatic colorectal cancer. New England Journal of Medicine, 350(23), 2335–2342.
- Kalyan, A., Kircher, S., Shah, H., Mulcahy, M., & Benson, A. (2018). Updates on immunotherapy for colorectal cancer. Journal of Gastrointestinal Oncology, 9(1), 160–169.
- Kircher, S. M., Nimeiri, H. S., & Benson, A. B. (2016). Targeting angiogenesis in colorectal cancer: Tyrosine kinase inhibitors. Cancer Journal, 22(3), 182–189.
- O’Neil, B. H., Wallmark, J. M., Lorente, D., Elez, E., Raimbourg, J., Gomez-Roca, C., Ejadi, S., Piha-Paul, S. A., Stein, M. N., Abdul Razak, A. R., et al. (2017). Safety and antitumor activity of the anti–PD-1 antibody pembrolizumab in patients with advanced colorectal carcinoma. PLoS ONE, 12(7), e0189848.
- Marcus, L., Lemery, S. J., Keegan, P., & Pazdur, R. (2019). FDA approval summary: Pembrolizumab for the treatment of microsatellite instability-high solid tumors. Clinical Cancer Research, 25(13), 3753–3758.
- Lee, J. J., & Chu, E. (2018). The adjuvant treatment of stage III colon cancer: Might less be more? Oncology, 32(9), 437–442.
- U.S. Food and Drug Administration. (2019). FDA approves nivolumab plus ipilimumab combination for intermediate or poor-risk advanced renal cell carcinoma. https://www.fda.gov/Drugs/InformationOnDrugs/ApprovedDrugs/ucm604685.htm
- Rogers, J. E. (2017). Patient considerations in metastatic colorectal cancer: Role of panitumumab. OncoTargets and Therapy, 10, 2033–2044.
- Jitawatanarat, P., & Ma, W. W. (2013). Update on antiangiogenic therapy in colorectal cancer: Aflibercept and regorafenib. Journal of Gastrointestinal Oncology, 4(3), 231–238.
- Kurkjian, C., & Kummar, S. (2010). Advances in the treatment of metastatic colorectal cancer. Disease-a-Month, 56(4), 187–203.
- Rothenberg, M. L. (2004). Irinotecan (CPT-11): Recent developments and future directions in colorectal cancer and beyond. The Oncologist, 6(2), 66–80.
- Ibrahim, A. (2004). FDA drug approval summaries: Oxaliplatin. The Oncologist, 9(1), 8–12.
- Bertino, J. R. (1997). Chemotherapy of colorectal cancer: History and new themes. Seminars in Oncology, 24(2 Suppl 6), S18–S23.
- Milsom, J. W., & Hammerhofer, K. A. (1995). Role of laparoscopic techniques in colorectal cancer surgery. Oncology, 9(5), 393–398.
- Heald, R. J., Husband, E. M., & Ryall, R. D. H. (1982). The mesorectum in rectal cancer surgery—The clue to pelvic recurrence? British Journal of Surgery, 69(10), 613–616.
- Warren, J. D., Xiong, W., Bunker, A. M., Vaughn, C. P., Furtado, L. V., Roberts, W. L., Fang, J. C., Samowitz, W. S., & Heichman, K. A. (2011). Septin 9 methylated DNA is a sensitive and specific blood test for colorectal cancer. BMC Medicine, 9, 133.
- Sepulveda, A. R., Hamilton, S. R., Allegra, C. J., Grody, W., Cushman-Vokoun, A. M., Funkhouser, W. K., Kopetz, S. E., Lieu, C., Lindor, N. M., & Minsky, B. D. (2017). Molecular biomarkers for the evaluation of colorectal cancer: Guideline. Archives of Pathology & Laboratory Medicine, 141(12), 1476–1486.
- Bordeaux, J., Welsh, A. W., Agarwal, S., Killiam, E., Baquero, M. T., Hanna, J. A., Anagnostou, V. K., & Rimm, D. L. (2010). Antibody validation. Biotechniques, 48(3), 197–209.
- O’Hurley, G., Sjöstedt, E., Rahman, A., Li, B., Kampf, C., Pontén, F., Gallagher, W. M., & Lindskog, C. (2014). Garbage in, garbage out: A critical evaluation of strategies used for validation of immunohistochemical biomarkers. Molecular Oncology, 8(4), 783–798.
- Allott, E. H., Geradts, J., Sun, X., Cohen, S. M., Zirpoli, G. R., Khoury, T., Bshara, W., Chen, M., Sherman, M. E., Palmer, J. R., et al. (2016). Intratumoral heterogeneity as a source of discordance in breast cancer biomarker classification. Breast Cancer Research, 18, 68.
- Comǎnescu, M., Arsene, D., Ardeleanu, C., & Bussolati, G. (2012). The mandate for proper preservation in histopathological tissues. Romanian Journal of Morphology and Embryology, 53(1), 233–242.
- Laterza, O. F., Hendrickson, R. C., & Wagner, J. A. (2007). Molecular biomarkers. Drug Information Journal, 41(4), 573–585.
- Pignone, M., Saha, S., Hoerger, T., & Mandelblatt, J. (2002). Cost-effectiveness analyses of colorectal cancer screening. Annals of Internal Medicine, 137(2), 96–104.
- Vogelstein, B., Fearon, E. R., Hamilton, S. R., Kern, S. E., Preisinger, A. C., Leppert, M., Smits, A. M. M., & Bos, J. L. (1988). Genetic alterations during colorectal-tumor development. New England Journal of Medicine, 319(9), 525–532.
- Lieberman, D. A. (2009). Screening for colorectal cancer. New England Journal of Medicine, 361(12), 1179–1187.
- Gao, Y., Wang, J., Zhou, Y., Sheng, S., Qian, S. Y., & Huo, X. (2018). Evaluation of serum CEA, CA19-9, CA72-4, CA125 and ferritin as diagnostic markers for colorectal cancer. Scientific Reports, 8, 2732.
- Shiratsuchi, I., Akagi, Y., Kawahara, A., Kinugasa, T., Romeo, K., Yoshida, T., Ryu, Y., Gotanda, Y., Kage, M., & Shirouzu, K. (2011). Expression of IGF-1 and IGF-1R in colorectal cancer. Anticancer Research, 31(7), 2541–2545.
- Tóth, K., Wasserkort, R., Sipos, F., Kalmár, A., Wichmann, B., Leiszter, K., Valcz, G., Juhász, M., Miheller, P., & Patai, Á. V. (2014). Detection of methylated SEPT9 in plasma of colorectal patients. PLOS ONE, 9(12), e115415.
- Wang, J. Y., Hsieh, J. S., Chang, M. Y., Huang, T. J., Chen, F. M., Cheng, T. L., Alexandersen, K., Huang, Y. S., Tzou, W. S., & Lin, S. R. (2004). Molecular detection of APC, KRAS, and TP53 mutations in serum. World Journal of Surgery, 28(7), 721–726.
- Church, T. R., Wandell, M., Lofton-Day, C., Mongin, S. J., Burger, M., Payne, S. R., Castaños-Vélez, E., Blumenstein, B. A., Rösch, T., & Osborn, N. (2014). Methylated SEPT9 plasma test for colorectal cancer screening. Gut, 63(2), 317–325.
- Wu, D., Zhou, G., Jin, P., Zhu, J., Li, S., Wu, Q., Wang, G., Sheng, J., Wang, J., & Song, L. (2016). SEPT9 methylation assay for colorectal cancer screening. Journal of Molecular Diagnostics, 18(4), 535–545.
- Jin, P., Kang, Q., Wang, X., Yang, L., Yu, Y., Li, N., He, Y. Q., Han, X., Hang, J., & Zhang, J. (2015). Second-generation SEPT9 methylation test performance. Journal of Gastroenterology and Hepatology, 30(5), 830–833.
- Su, X. L., Wang, Y. F., Li, S. J., Zhang, F., & Cui, H. W. (2014). SEPT9 methylation in Chinese colorectal cancer patients. Genetics and Molecular Research, 13(2), 2513–2520.
- Tóth, K., Sipos, F., Kalmár, A., Patai, Á. V., Wichmann, B., Stoehr, R., Golcher, H., Schellerer, V., Tulassay, Z., & Molnár, B. (2012). Plasma methylated SEPT9 as colorectal cancer screening marker. PLOS ONE, 7(7), e46000.
- Wang, Y., Chen, P. M., & Liu, R. B. (2018). SEPT9 gene methylation in colorectal cancer detection. World Journal of Gastrointestinal Oncology, 10(1), 15–22.
- Kojima, K., Sakai, I., Hasegawa, A., Niiya, H., Azuma, T., Matsuo, Y., Fujii, N., Tanimoto, M., & Fujita, S. (2004). SEPT9 fusion in leukemia cell line. Leukemia, 18(6), 998–1005.
- Montagna, C., Lyu, M. S., Hunter, K., Lukes, L., Lowther, W., Reppert, T., Hissong, B., Weaver, Z., & Ried, T. (2003). SEPT9 overexpression in mammary adenocarcinoma. Cancer Research, 63(8), 2179–2187.
- Burrows, J. F., Chanduloy, S., McIlhatton, M. A., Nagar, H., Yeates, K., Donaghy, P., Price, J., Godwin, A. K., Johnston, P. G., & Russell, S. E. H. (2003). SEPT9 expression in ovarian neoplasia. Journal of Pathology, 201(4), 581–588.
- Amir, S., Golan, M., & Mabjeesh, N. J. (2010). SEPT9 knockdown inhibits tumor growth and angiogenesis. Molecular Cancer Research, 8(5), 643–652.
- Kim, D. S., Hubbard, S. L., Peraud, A., Salhia, B., Sakai, K., & Rutka, J. T. (2004). Septin expression in brain tumors. Neoplasia, 6(2), 168–178.
- Ma, Z. Y., Law, W. L., Ng, E. K. O., Chan, C. S. Y., Lau, K. S., Cheng, Y. Y., Shin, V. Y., Kwong, A., & Leung, W. K. (2019). Methylated SEPT9 and CEA in colorectal cancer monitoring. Scientific Reports, 9, 10326.
- Ma, Z., Williams, M., Cheng, Y. Y., & Leung, W. K. (2019). Methylated DNA biomarkers in colorectal cancer. Disease Markers, 2019, 2673543.
- Nguyen, M. T., & Weinberg, D. S. (2016). Biomarkers in colorectal cancer screening. JNCCN Journal of the National Comprehensive Cancer Network, 14(8), 1033–1040.
- Vymetalkova, V., Cervena, K., Bartu, L., & Vodicka, P. (2018). Circulating cell-free DNA in colorectal cancer. International Journal of Molecular Sciences, 19(11), 3356.
- Tsang, A. H. F., Cheng, K. H., Wong, A. S. P., Ng, S. S. M., Ma, B. B. Y., Chan, C. M. L., Tsui, N. B. Y., Chan, L. W. C., Yung, B. Y. M., & Wong, S. C. C. (2014). Molecular diagnostics in colorectal cancer. World Journal of Gastroenterology, 20(12), 3847–3857.
- Vilar, E., & Gruber, S. B. (2010). Microsatellite instability in colorectal cancer. Nature Reviews Clinical Oncology, 7(3), 153–162.
- Legolvan, M. P., Taliano, R. J., & Resnick, M. B. (2012). Molecular techniques in colorectal cancer diagnosis. Human Pathology, 43(8), 1157–1168.
- Huth, L., Jäkel, J., & Dahl, E. (2014). Molecular diagnostics in colorectal cancer. Microarrays, 3(3), 168–179.
- Jover, R., Zapater, P., Castells, A., Llor, X., Andreu, M., Cubiella, J., Balaguer, F., Sempere, L., & Bujanda, L. (2009). Mismatch repair and chemotherapy efficacy. European Journal of Cancer, 45(2), 365–373.
- Overman, M. J., Lonardi, S., Wong, K. Y. M., Lenz, H. J., Gelsomino, F., Aglietta, M., Morse, M. A., Van Cutsem, E., McDermott, R., & Hill, A. (2018). Nivolumab plus ipilimumab in MSI-H colorectal cancer. Journal of Clinical Oncology, 36(8), 773–779.
- Overman, M. J., McDermott, R., Leach, J. L., Lonardi, S., Lenz, H. J., Morse, M. A., Desai, J., Hill, A., Axelson, M., & Moss, R. A. (2017). CheckMate 142 study. Lancet Oncology, 18(9), 1182–1191.
- Gong, J., Wang, C., Lee, P. P., Chu, P., & Fakih, M. (2017). PD-1 blockade response in POLE-mutated colorectal cancer. JNCCN Journal of the National Comprehensive Cancer Network, 15(2), 142–147.
- Sorich, M. J., Wiese, M. D., Rowland, A., Kichenadasse, G., McKinnon, R. A., & Karapetis, C. S. (2015). Extended RAS mutations and anti-EGFR therapy. Annals of Oncology, 26(1), 13–21.
- Van Cutsem, E., Lenz, H. J., Köhne, C. H., Heinemann, V., Tejpar, S., & others. (2015). FOLFOX plus cetuximab in RAS wild-type CRC. Journal of Clinical Oncology, 33(7), 692–700.
- Rodrigues, D., Longatto-Filho, A., & Martins, S. F. (2016). Predictive biomarkers in colorectal cancer. BioMed Research International, 2016, 1–12.
- Douillard, J. Y., Siena, S., Cassidy, J., Tabernero, J., Burkes, R., & others. (2010). PRIME study panitumumab in CRC. Journal of Clinical Oncology, 28(31), 4697–4705.
- Van Cutsem, E., Köhne, C. H., Hitre, E., Zaluski, J., Chang Chien, C. R., & others. (2009). Cetuximab first-line treatment study. New England Journal of Medicine, 360(14), 1408–1417.
- Douillard, J. Y., Oliner, K. S., Siena, S., Tabernero, J., Burkes, R., & others. (2013). Panitumumab FOLFOX4 RAS study. New England Journal of Medicine, 369(11), 1023–1034.
- Ursem, C., Atreya, C. E., & Van Loon, K. (2018). Emerging treatment options for BRAF-mutant colorectal cancer. Gastrointestinal Cancer: Targets and Therapy, 8, 13–23.
- Di Nicolantonio, F., Martini, M., Molinari, F., Sartore-Bianchi, A., Arena, S., Saletti, P., De Dosso, S., Mazzucchelli, L., Frattini, M., & Siena, S. (2008). Wild-type BRAF is required for response to anti-EGFR therapy in metastatic colorectal cancer. Journal of Clinical Oncology, 26(35), 5705–5712.
- Capper, D., Voigt, A., Bozukova, G., Ahadova, A., Kickingereder, P., Von Deimling, A., Von Knebel Doeberitz, M., & Kloor, M. (2013). BRAF V600E immunohistochemistry for exclusion of Lynch syndrome. International Journal of Cancer, 133(7), 1624–1630.
- Chen, W., Swanson, B. J., & Frankel, W. L. (2017). Molecular genetics of microsatellite-unstable colorectal cancer. Diagnostic Pathology, 12, 24.
- Tian, S., Roepman, P., Popovici, V., Michaut, M., Majewski, I., Salazar, R., Santos, C., Rosenberg, R., Nitsche, U., Mesker, W. E., et al. (2012). Genomic signature for microsatellite instability in colorectal cancer. Journal of Pathology, 228(5), 586–595.
- Roth, A. D., Tejpar, S., Delorenzi, M., Yan, P., Fiocca, R., Klingbiel, D., Dietrich, D., Biesmans, B., Bodoky, G., Barone, C., et al. (2010). KRAS and BRAF prognostic impact in colon cancer. Journal of Clinical Oncology, 28(3), 466–474.
- Manthravadi, S., Sun, W., & Saeed, A. (2018). Prognostic impact of BRAF V600E mutation in MSI colorectal cancer. Journal of Clinical Oncology, 36*(15_suppl), 3597.
- Rosenbaum, M. W., Bledsoe, J. R., Morales-Oyarvide, V., Huynh, T. G., & Mino-Kenudson, M. (2016). PD-L1 expression in colorectal cancer and molecular associations. Modern Pathology, 29(10), 1104–1112.
- Lee, L. H., Cavalcanti, M. S., Segal, N. H., Hechtman, J. F., Weiser, M. R., Smith, J. J., Garcia-Aguilar, J., Sadot, E., Ntiamoah, P., & Markowitz, A. J. (2016). PD-1/PD-L1 expression in colorectal carcinoma. Modern Pathology, 29(12), 1433–1442.
- Droeser, R. A., Hirt, C., Viehl, C. T., Frey, D. M., Nebiker, C., Huber, X., Zlobec, I., Eppenberger-Castori, S., Tzankov, A., & Rosso, R. (2013). PD-L1 expression in colorectal cancer prognosis. European Journal of Cancer, 49(10), 2233–2242.
- Wang, H. B., Yao, H., Li, C. S., Liang, L. X., Zhang, Y., Chen, Y. X., Fang, J. Y., & Xu, J. (2017). PD-L1 expression in colorectal cancer metastasis. Journal of Digestive Diseases, 18(10), 574–581.
- Llosa, N. J., Cruise, M., Tam, A., Wicks, E. C., Hechenbleikner, E. M., Taube, J. M., Blosser, R. L., Fan, H., Wang, H., & Luber, B. S. (2015). Immune microenvironment in MSI colorectal cancer. Cancer Discovery, 5(1), 43–51.
- Zhu, Y. F., Yu, B. H., Li, D. L., Ke, H. L., Guo, X. Z., & Xiao, X. Y. (2012). PI3K expression and PIK3CA mutation in colorectal cancer metastasis. World Journal of Gastroenterology, 18(28), 3745–3751.
- Mao, C., Yang, Z. Y., Hu, X. F., Chen, Q., & Tang, J. L. (2012). PIK3CA mutations and resistance to anti-EGFR therapy. Annals of Oncology, 23(6), 1518–1525.
- Prenen, H., De Schutter, J., Jacobs, B., De Roock, W., Biesmans, B., Claes, B., Lambrechts, D., & Van Cutsem, E. (2009). PIK3CA mutations and cetuximab resistance. Clinical Cancer Research, 15(10), 3184–3188.
- Alvarez-Garcia, V., Bartos, C., Keraite, I., Trivedi, U., Brennan, P. M., Kersaudy-Kerhoas, M., Gharbi, K., & Leslie, N. R. (2018). Real-time PCR detection of PIK3CA mutations. Scientific Reports, 8, 4290.
- Yazdani, Y., Farazmandfar, T., Azadeh, H., & Zekavatian, Z. (2016). PTEN expression in colorectal cancer. Journal of Biomedical Science, 23, 9.
- Negri, F. V., Bozzetti, C., Lagrasta, C. A., Crafa, P., Bonasoni, M. P., Camisa, R., & Ardizzoni, A. (2010). PTEN status and cetuximab response. British Journal of Cancer, 102(1), 162–164.
- Laurent-Puig, P., Cayre, A., Manceau, G., Buc, E., Bachet, J. B., Lecomte, T., Rougier, P., & Lievre, A. (2009). PTEN/BRAF/EGFR status in cetuximab therapy. Journal of Clinical Oncology, 27(33), 5924–5930.
- Loupakis, F., Pollina, L., Stasi, I., Ruzzo, A., Scartozzi, M., Santini, D., & Cremolini, C. (2009). PTEN expression and cetuximab benefit in metastatic CRC. Journal of Clinical Oncology, 27(16), 2622–2629.
- Bohn, B. A., Mina, S., Krohn, A., Simon, R., Kluth, M., Harasimowicz, S., Sauter, G., & Bockhorn, M. (2013). PTEN loss and prognosis in rectal cancer. Human Pathology, 44(8), 1524–1533.
- Atreya, C. E., Sangale, Z., Xu, N., Matli, M. R., Tikishvili, E., Welbourn, W., & Warren, R. S. (2013). PTEN expression and survival in colorectal cancer. Cancer Medicine, 2(4), 496–506.
- Eklöf, V., Wikberg, M. L., Edin, S., Dahlin, A. M., Jonsson, B. A., Öberg, Å., Rutegård, J., & Palmqvist, R. (2013). KRAS, BRAF, PIK3CA, PTEN prognostic roles. British Journal of Cancer, 108(10), 2153–2163.
- Day, F. L., Jorissen, R. N., Lipton, L., Mouradov, D., Sakthianandeswaren, A., Christie, M., & Li, S. (2013). PIK3CA and PTEN mutation associations in CRC. Clinical Cancer Research, 19(12), 3285–3296.
- Pazhoomand, R., Keyhani, E., Banan, M., Najmabadi, H., & Khodadadi, F. (2013). HER2 detection methods in cancer. Asian Pacific Journal of Cancer Prevention, 14(12), 7621–7628.
- Valtorta, E., Martino, C., Sartore-Bianchi, A., Penaullt-Llorca, F., Viale, G., & Risio, M. (2015). HER2 scoring system in colorectal cancer. Modern Pathology, 28(12), 1481–1491.
- Muzny, D. M., Bainbridge, M. N., Chang, K., Dinh, H. H., Drummond, J. A., Fowler, G., & Newsham, I. F. (2012). Molecular characterization of colon cancer. Nature, 487(7407), 330–337.
- Sartore-Bianchi, A., Trusolino, L., Martino, C., Bencardino, K., Lonardi, S., Bergamo, F., & Siena, S. (2016). HER2-targeted therapy in metastatic colorectal cancer. Lancet Oncology, 17(6), 738–746.
- Schepeler, T., Reinert, J. T., Ostenfeld, M. S., Christensen, L. L., Silahtaroglu, A. N., Dyrskjøt, L., & Agami, R. (2008). MicroRNAs in stage II colon cancer. Cancer Research, 68(15), 6416–6424.
- Nagel, R., Le Sage, C., Diosdado, B., Van Der Waal, M., & Agami, R. (2008). miR-135 regulation of APC gene. Cancer Research, 68(14), 5795–5802.
- Kan, S. F., Yang, J. S., Sun, G. X., & Sun, J. J. (2016). miR-135b in colorectal cancer progression. International Journal of Clinical and Experimental Medicine, 9(3), 6533–6538.
- Zhou, W., Li, X., Liu, F., Xiao, Z., He, M., Shen, S., & Liu, S. (2012). miR-135a in colorectal cancer growth and invasion. Acta Biochimica et Biophysica Sinica, 44(10), 838–846.
- Lu, D., Tang, L., Zhuang, Y., & Zhao, P. (2018). miR-17-3p in colon cancer cell survival. Molecular Medicine Reports, 17(4), 618–623.
- Chen, E., Li, Q., Wang, H., Yang, F., & Min, L. (2018). miR-92a in colorectal tumorigenesis. Biomedicine & Pharmacotherapy, 106, 1370–1377.
- Yang, X., Zeng, Z., Hou, Y., Yuan, T., & Gao, C. (2014). miR-92a as colorectal cancer biomarker. PLOS ONE, 9(9), e88745.
- Pu, X. X., Huang, G. L., Guo, H. Q., Guo, C. C., & Li, H. (2010). Circulating miR-221 in colorectal cancer. Journal of Gastroenterology and Hepatology, 25(10), 1674–1680.
- Dong, Y., Zhao, J., Wu, C. W., Zhang, L., Liu, X., Kang, W., & Sung, J. J. Y. (2013). miR-133a tumor suppressor role in CRC. Molecular Cancer Research, 11(9), 1051–1060.
- Guinney, J., Dienstmann, R., Wang, X., De Reyniès, A., Schlicker, A., Soneson, C., & et al. (2015). Consensus molecular subtypes of colorectal cancer. Nature Medicine, 21(11), 1350–1356.
- Williams, D. S., Mouradov, D., Jorissen, R. N., Newman, M. R., Amini, E., Nickless, D. K., & et al. (2019). Lymphocytic response and MMR deficiency subtypes. Gut, 68(3), 465–474.
- Marisa, L., Ayadi, M., Balogoun, R., Pilati, C., & Lepage, C. (2017). Validation of colorectal cancer molecular subtypes. Journal of Clinical Oncology, 35(15), 3509.
- Mooi, J. K., Wirapati, P., Asher, R., Lee, C. K., Savas, P., Townsend, A., & Buchanan, D. (2018). CMS subtypes and bevacizumab response. Annals of Oncology, 29(10), 2240–2246.
- Lenz, H. J., Ou, F. S., Venook, A. P., Hochster, H. S., Niedzwiecki, D., & Goldberg, R. M. (2019). CMS subtype survival impact in metastatic CRC. Journal of Clinical Oncology, 37(22), 1876–1885.
- Okita, A., Takahashi, S., Ouchi, K., Inoue, M., & Watanabe, M. (2018). CMS classification and chemotherapy response. Oncotarget, 9(23), 18698–18711.
- Smith, R. A., Andrews, K. S., Brooks, D., Fedewa, S. A., & Wender, R. C. (2018). Cancer screening guidelines update. CA: A Cancer Journal for Clinicians, 68(4), 297–316.
- Sargent, D. J., Marsoni, S., Monges, G., Thibodeau, S. N., & Hamilton, S. R. (2010). Mismatch repair deficiency and chemotherapy response. Journal of Clinical Oncology, 28(2), 3219–3226.
- Chen, G., Yang, Z., Eshleman, J. R., Netto, G. J., & Lin, M. T. (2016). Molecular diagnostics in colorectal cancer. BioMed Research International, 2016, 9850690.
- Cree, I. A. (2016). PCR-based RAS mutation testing. Biomolecular Detection and Quantification, 8, 29–32.
- Garcia, J., Forestier, J., Dusserre, E., Wozny, A. S., & Merle, P. (2018). ctDNA RAS mutation detection comparison. Oncotarget, 9(26), 21122–21131.
- Neumann, J., Zeindl-Eberhart, E., Kirchner, T., & Jung, A. (2009). KRAS mutation frequency in colorectal cancer. Pathology Research and Practice, 205(12), 858–862.
- Tsiatis, A. C., Norris-Kirby, A., Rich, R. G., Hafez, M. J., & Murphy, K. M. (2010). KRAS mutation detection comparison methods. Journal of Molecular Diagnostics, 12(4), 425–432.
- Szankasi, P., Reading, N. S., Vaughn, C. P., Prchal, J. T., & Bahler, D. W. (2013). qPCR BRAF mutation detection method. Journal of Molecular Diagnostics, 15(2), 248–254.
- Do, H., Krypuy, M., Mitchell, P. L., Fox, S. B., & Dobrovic, A. (2008). HRM analysis for KRAS/EGFR detection. BMC Cancer, 8, 142.
- Oliner, K., Juan, T., Suggs, S., Wolf, M., & Sarosi, I. (2010). KRAS diagnostic assay comparison. Diagnostic Pathology, 5, 23.
- Kobunai, T., Watanabe, T., Yamamoto, Y., & Eshima, K. (2010). KRAS assay sensitivity comparison. Biochemical and Biophysical Research Communications, 395(2), 158–162.
- Sarasqueta, A. F., Moerland, E., De Bruyne, H., & Van Den Brule, A. J. C. (2011). SNaPshot KRAS detection assay. Journal of Molecular Diagnostics, 13(2), 199–205.
- Halait, H., Demartin, K., Shah, S., Soviero, S., & Langland, R. (2012). BRAF V600E assay validation. Diagnostic Molecular Pathology, 21(1), 1–8.
- Harbison, C. T., Horak, C. E., Ledeine, J. M., Mukhopadhyay, P., & Malone, D. P. (2013). KRAS companion diagnostic validation. Archives of Pathology & Laboratory Medicine, 137(6), 820–827.
- Harlé, A., Busser, B., Rouyer, M., Harter, V., & Merlin, J. L. (2013). KRAS assay comparison FFPE samples. Virchows Archiv, 462(3), 329–335.
- Nordgård, O., Oltedal, S., Janssen, E. A. M., & Tjensvoll, K. (2012). PNA clamp PCR KRAS detection. Diagnostic Molecular Pathology, 21(1), 9–13.
- Orum, H. (2000). PCR clamping technology. Current Issues in Molecular Biology, 2(1), 27–30.
- Mancini, I., Santucci, C., Sestini, R., Simi, L., & Orlando, C. (2010). COLD-PCR HRM mutation detection. Journal of Molecular Diagnostics, 12(6), 705–711.
- Solassol, J., Vendrell, J., Märkl, B., Haas, C., & Montagut, C. (2016). Idylla KRAS assay multicenter evaluation. PLOS ONE, 11(9), e0163444.
- Johnston, L., Power, M., Sloan, P., Long, A., & Steiniche, T. (2018). Idylla NRAS-BRAF assay performance. Journal of Clinical Pathology, 71(4), 336–343.
- Lewandowska, M. A., Jóźwicki, W., & Żurawski, B. (2013). KRAS/BRAF mutation analysis low tumor content. Molecular Diagnosis & Therapy, 17(4), 193–203.
- Magnin, S., Viel, E., Baraquin, A., Valmary-Degano, S., & Mougin, C. (2011). SNaPshot multiplex KRAS/BRAF assay. Journal of Molecular Diagnostics, 13(5), 485–492.
- Denis, J. A., Patroni, A., Guillerm, E., Pépin, D., & Manceau, G. (2016). ctDNA KRAS mutation prediction using digital PCR. Molecular Oncology, 10(8), 1221–1231.
- Neumann, M. H. D., Bender, S., Krahn, T., & Schlange, T. (2018). ctDNA and CTCs in liquid biopsy. Computational and Structural Biotechnology Journal, 16, 190–195.
- Baudrin, L. G., Deleuze, J. F., & How-Kit, A. (2018). Microsatellite instability detection methods. Frontiers in Oncology, 8, 621.
- Redford, L., Alhilal, G., Needham, S., O’Brien, O., & Middleton, I. (2018). MSI detection mononucleotide repeat panel. PLOS ONE, 13(9), e0203052.
- Murphy, K. M., Zhang, S., Geiger, T., Hafez, M. J., & Eshleman, J. R. (2006). MSI detection system comparison. Journal of Molecular Diagnostics, 8(3), 305–311.
- Babaei, H., Zeinalian, M., Emami, M. H., & Salehi, R. (2017). Simplified MSI detection protocol. Cancer Biology & Medicine, 14(2), 142–150.
- Chen, C., Ridzon, D. A., Broomer, A. J., Zhou, Z., & Lee, D. H. (2005). Real-time microRNA quantification method. Nucleic Acids Research, 33(20), e179.
- Li, W., & Ruan, K. (2009). MicroRNA detection microarray method. Analytical and Bioanalytical Chemistry, 394(4), 1117–1124.
- Hou, S. Y., Hsiao, Y. L., Lin, M. S., & Chang, C. S. (2012). Lateral flow miRNA detection assay. Talanta, 99, 375–379.
- Mao, X., Xu, H., Zeng, Q., & Liu, G. (2009). Gold nanoparticle molecular beacon biosensor. Chemical Communications, 45, 3065–3067.
- He, Y., Zhang, S., Zhang, X., Baloda, M., & Liu, G. (2011). Ultrasensitive nucleic acid biosensor. Biosensors and Bioelectronics, 26(5), 2018–2024.
- Aravanis, A. M., Lee, M., & Klausner, R. D. (2017). Next-generation sequencing of ctDNA. Cell, 168(4), 571–574.
- Marcuello, M., Vymetalkova, V., Neves, R. P. L., & Duran-Sanchon, S. (2019). Circulating biomarkers in colorectal cancer. Molecular Aspects of Medicine, 69, 107–122.
- Andrews, D., Chetty, Y., Cooper, B. S., Virk, M., & Glass, S. K. (2017). Point-of-care PCR testing impact study. BMC Infectious Diseases, 17, 671.
- Lindeman, N. I., Cagle, P. T., Beasley, M. B., Chitale, D. A., & Dacic, S. (2013). Molecular testing guideline for targeted therapy selection. Journal of Thoracic Oncology, 8(7), 823–859.
引用
Pang, S.-W., Awi, N. J., Armon, S., Lim, W. W.-D., Low, J. S.-H., Peh, K.-B., Peh, S.-C., & Teow, S.-Y. (2020). Current Update of Laboratory Molecular Diagnostics Advancement in Management of Colorectal Cancer (CRC). Diagnostics, 10(1), 9. https://doi.org/10.3390/diagnostics10010009


