Gene mutation and surgical technique: Suggestion or more?

Yoshikuni Kawaguchi, Heather A Lillemoe, Jean-Nicolas Vauthey, Yoshikuni Kawaguchi, Heather A Lillemoe, Jean-Nicolas Vauthey

Abstract

Advancements in chemotherapy and molecular targeted therapy have improved long-term outcomes for patients with resectable colorectal liver metastases (CLM). RAS mutation status was an original focus as a molecular biomarker as it predicted treatments response to anti-epidermal growth factor receptor agents. More recently, studies have incorporated somatic mutation data in analyses pertaining to surgical outcomes and prognosis. This evidenced-based review covers the implications of somatic mutations in patients undergoing resection of CLM.

Keywords: Colorectal liver metastasis; Multiple gene mutation; Somatic gene mutation.

Copyright © 2019 Elsevier Ltd. All rights reserved.

References

    1. Manfredi S, Lepage C, Hatem C, Coatmeur O, Faivre J, Bouvier AM. Epidemiology and management of liver metastases from colorectal cancer. Ann Surg. 244 (2006) 254–259. 10.1097/
    1. Choti MA, Sitzmann JV, Tiburi MF, Sumetchotimetha W, Rangsin R, Schulick RD, et al. Trends in long-term survival following liver resection for hepatic colorectal metastases. Ann Surg. 235 (2002) 759–766.
    1. Abdalla EK, Vauthey J-N, Ellis LM, Ellis V, Pollock R, Broglio KR, et al. Recurrence and Outcomes Following Hepatic Resection, Radiofrequency Ablation, and Combined Resection/Ablation for Colorectal Liver Metastases. Ann Surg. 239 (2004) 818–827. 10.1097/01.sla.0000128305.90650.71
    1. Fernandez FG, Drebin JA, Linehan DC, Dehdashti F, Siegel BA, Strasberg SM. Five-year survival after resection of hepatic metastases from colorectal cancer in patients screened by positron emission tomography with F-18 Fluorodeoxyglucose (FDG-PET). Ann Surg. 240 (2004) 438–450. 10.1097/01.sla.0000138076.72547.b1
    1. Bismuth H, Adam R, Levi F, Farabos C, Waechter F, Castaing D, et al. Resection of nonresectable liver metastases from colorectal cancer after neoadjuvant chemotherapy. Ann Surg. 224 (1996) 509–520.
    1. Cunningham D, Humblet Y, Siena S, Khayat D, Bleiberg H, Santoro A, et al. Cetuximab monotherapy and cetuximab plus irinotecan in irinotecan-refractory metastatic colorectal cancer. N Engl J Med. 351 (2004) 337–345. 10.1056/NEJMoa033025
    1. Moroni M, Veronese S, Benvenuti S, Marrapese G, Sartore-Bianchi A, Di Nicolantonio F, et al. Gene copy number for epidermal growth factor receptor (EGFR) and clinical response to antiEGFR treatment in colorectal cancer: a cohort study. Lancet Oncol. 6 (2005) 279–286. 10.1016/s1470-2045(05)70102-9
    1. Van Cutsem E, Peeters M, Siena S, Humblet Y, Hendlisz A, Neyns B, et al. Open-label phase III trial of panitumumab plus best supportive care compared with best supportive care alone in patients with chemotherapy-refractory metastatic colorectal cancer. J Clin Oncol. 25 (2007) 1658–1664. 10.1200/JCO.2006.08.1620
    1. Amado RG, Wolf M, Peeters M, Van Cutsem E, Siena S, Freeman DJ, et al. Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer. J Clin Oncol. 26 (2008) 1626–1634. 10.1200/JCO.2007.14.7116
    1. Downward J Targeting RAS signalling pathways in cancer therapy. Nat Rev Cancer. 3 (2003) 11–22. 10.1038/nrc969
    1. Siena S, Sartore-Bianchi A, Di Nicolantonio F, Balfour J, Bardelli A. Biomarkers predicting clinical outcome of epidermal growth factor receptor-targeted therapy in metastatic colorectal cancer. J Natl Cancer Inst. 101 (2009) 1308–1324. 10.1093/jnci/djp280
    1. Scaltriti M, Baselga J. The epidermal growth factor receptor pathway: a model for targeted therapy. Clin Cancer Res. 12 (2006) 5268–5272. 10.1158/1078-0432.CCR-05-1554
    1. Yarden Y, Sliwkowski MX. Untangling the ErbB signalling network. Nat Rev Mol Cell Biol. 2 (2001) 127–137. 10.1038/35052073
    1. Lievre A, Bachet JB, Le Corre D, Boige V, Landi B, Emile JF, et al. KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer. Cancer Res. 66 (2006) 3992–3995. 10.1158/0008-5472.CAN-06-0191
    1. Kawaguchi Y, Kopetz S, Newhook TE, DB M, Chun YS, Tzeng CWD, et al. Mutation status of RAS, TP53, and SMAD4 is superior to mutation status of RAS alone for predicting prognosis after resection of colorectal liver metastases. Clin Cancer Res. (2019)
    1. Barras D BRAF mutation in colorectal cancer: An update. Biomark Cancer. 7 (2015) 9–12. 10.4137/BIC.S25248
    1. Benvenuti S, Sartore-Bianchi A, Di Nicolantonio F, Zanon C, Moroni M, Veronese S, et al. Oncogenic activation of the RAS/RAF signaling pathway impairs the response of metastatic colorectal cancers to anti-epidermal growth factor receptor antibody therapies. Cancer Res. 67 (2007) 2643–2648. 10.1158/0008-5472.CAN-06-4158
    1. Tejpar S, Bertagnolli M, Bosman F, Lenz HJ, Garraway L, Waldman F, et al. Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery. Oncologist. 15 (2010) 390–404. 10.1634/theoncologist.2009-0233
    1. Yuan ZX, Wang XY, Qin QY, Chen DF, Zhong QH, Wang L, et al. The prognostic role of BRAF mutation in metastatic colorectal cancer receiving anti-EGFR monoclonal antibodies: a meta-analysis. PLoS One. 8 (2013) e65995 10.1371/journal.pone.0065995
    1. Roth AD, Tejpar S, Delorenzi M, Yan P, Fiocca R, Klingbiel D, et al. Prognostic role of KRAS and BRAF in stage II and III resected colon cancer: results of the translational study on the PETACC-3, EORTC 40993, SAKK 60-00 trial. J Clin Oncol. 28 (2010) 466–474. 10.1200/JCO.2009.23.3452
    1. Margonis GA, Buettner S, Andreatos N, Kim Y, Wagner D, Sasaki K, et al. Association of BRAF Mutations With Survival and Recurrence in Surgically Treated Patients With Metastatic Colorectal Liver Cancer. JAMA Surg. 153 (2018) e180996 10.1001/jamasurg.2018.0996
    1. Schirripa M, Bergamo F, Cremolini C, Casagrande M, Lonardi S, Aprile G, et al. BRAF and RAS mutations as prognostic factors in metastatic colorectal cancer patients undergoing liver resection. Br J Cancer. 112 (2015) 1921–1928. 10.1038/bjc.2015.142
    1. Umeda Y, Nagasaka T, Mori Y, Sadamori H, Sun DS, Shinoura S, et al. Poor prognosis of KRAS or BRAF mutant colorectal liver metastasis without microsatellite instability. J Hepatobiliary Pancreat Sci. 20 (2013) 223–233. 10.1007/s00534-012-0531-9
    1. Teng HW, Huang YC, Lin JK, Chen WS, Lin TC, Jiang JK, et al. BRAF mutation is a prognostic biomarker for colorectal liver metastasectomy. J Surg Oncol. 106 (2012) 123–129. 10.1002/jso.23063
    1. Loes IM, Immervoll H, Sorbye H, Angelsen JH, Horn A, Knappskog S, et al. Impact of KRAS, BRAF, PIK3CA, TP53 status and intraindividual mutation heterogeneity on outcome after liver resection for colorectal cancer metastases. Int J Cancer. 139 (2016) 647–656. 10.1002/ijc.30089
    1. Vauthey JN, Zimmitti G, Kopetz SE, Shindoh J, Chen SS, Andreou A, et al. RAS mutation status predicts survival and patterns of recurrence in patients undergoing hepatectomy for colorectal liver metastases. Ann Surg. 258 (2013) 619–626. 10.1097/SLA.0b013e3182a5025a
    1. Gagniere J, Dupre A, Gholami SS, Pezet D, Boerner T, Gonen M, et al. Is Hepatectomy Justified for BRAF Mutant Colorectal Liver Metastases?: A Multi-institutional Analysis of 1497 Patients. Ann Surg. (2018) 10.1097/SLA.0000000000002968
    1. Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, et al. Mutations of the BRAF gene in human cancer. Nature. 417 (2002) 949–954. 10.1038/nature00766
    1. Cremolini C, Di Bartolomeo M, Amatu A, Antoniotti C, Moretto R, Berenato R, et al. BRAF codons 594 and 596 mutations identify a new molecular subtype of metastatic colorectal cancer at favorable prognosis. Ann Oncol. 26 (2015) 2092–2097. 10.1093/annonc/mdv290
    1. Jones JC, Renfro LA, Al-Shamsi HO, Schrock AB, Rankin A, Zhang BY, et al. (Non-V600) BRAF mutations define a clinically distinct molecular subtype of metastatic colorectal cancer. J Clin Oncol. 35 (2017) 2624–2630. 10.1200/JCO.2016.71.4394
    1. Lakatos E Sample sizes based on the log-rank statistic in complex clinical-trials. Biometrics. 44 (1988) 229–241. Doi 10.2307/2531910
    1. Vousden KH, Lu X. Live or let die: the cell’s response to p53. Nat Rev Cancer. 2 (2002) 594–604. 10.1038/nrc864
    1. Balint EE, Vousden KH. Activation and activities of the p53 tumour suppressor protein. Br J Cancer. 85 (2001) 1813–1823. 10.1054/bjoc.2001.2128
    1. Tullo A, D’Erchia AM, Honda K, Mitry RR, Kelly MD, Habib NA, et al. Characterization of p53 mutations in colorectal liver metastases and correlation with clinical parameters. Clin Cancer Res. 5 (1999) 3523–3528.
    1. Yang Y, Forslund A, Remotti H, Lonnroth C, Andersson M, Brevinge H, et al. P53 mutations in primary tumors and subsequent liver metastases are related to survival in patients with colorectal carcinoma who undergo liver resection. Cancer. 91 (2001) 727–736.
    1. Mollevi DG, Serrano T, Ginesta MM, Valls J, Torras J, Navarro M, et al. Mutations in TP53 are a prognostic factor in colorectal hepatic metastases undergoing surgical resection. Carcinogenesis. 28 (2007) 1241–1246. 10.1093/carcin/bgm012
    1. Kawaguchi Y, Lillemoe HA, Panettieri E, Chun YS, Tzeng CWD, Aloia TA, et al. Conditional recurrence-free survival after resection of colorectal liver metastases: persistent deleterious association with RAS and TP53 Co-mutation. J Am Coll Surg. (2019) 10.1016/j.jamcollsurg.2019.04.027
    1. Pilat N, Grunberger T, Langle F, Mittlbock M, Perisanidis B, Kappel S, et al. Assessing the TP53 marker type in patients treated with or without neoadjuvant chemotherapy for resectable colorectal liver metastases: a p53 Research Group study. Eur J Surg Oncol. 41 (2015) 683–689. 10.1016/j.ejso.2015.02.003
    1. Saw RP, Koorey D, Painter D, Gallagher PJ, Solomon MJ. p53, DCC and thymidylate synthase as predictors of survival after resection of hepatic metastases from colorectal cancer. Br J Surg. 89 (2002) 1409–1415. 10.1046/j.1365-2168.2002.02222.x
    1. de Jong KP, Gouw AS, Peeters PM, Bulthuis M, Menkema L, Porte RJ, et al. P53 mutation analysis of colorectal liver metastases: relation to actual survival, angiogenic status, and p53 overexpression. Clin Cancer Res. 11 (2005) 4067–4073. 10.1158/1078-0432.CCR-04-2389
    1. Frankel TL, Vakiani E, Nathan H, DeMatteo RP, Kingham TP, Allen PJ, et al. Mutation location on the RAS oncogene affects pathologic features and survival after resection of colorectal liver metastases. Cancer. 123 (2017) 568–575. 10.1002/cncr.30351
    1. Chun YS, Passot G, Yamashita S, Nusrat M, Katsonis P, Loree JM, et al. Deleterious effect of RAS and evolutionary high-risk TP53 double mutation in colorectal liver metastases. Ann Surg. 269 (2019) 917–923. 10.1097/SLA.0000000000002450
    1. Karakas B, Bachman KE, Park BH. Mutation of the PIK3CA oncogene in human cancers. Br J Cancer. 94 (2006) 455–459. 10.1038/sj.bjc.6602970
    1. Liu P, Cheng H, Roberts TM, Zhao JJ. Targeting the phosphoinositide 3-kinase pathway in cancer. Nature Reviews Drug Discovery. 8 (2009) 627–644. 10.1038/nrd2926
    1. Massague J, Blain SW, Lo RS. TGFbeta signaling in growth control, cancer, and heritable disorders. Cell. 103 (2000) 295–309.
    1. Massague J TGFbeta signalling in context. Nat Rev Mol Cell Biol. 13 (2012) 616–630. 10.1038/nrm3434
    1. Mizuno T, Cloyd JM, Vicente D, Omichi K, Chun YS, Kopetz SE, et al. SMAD4 gene mutation predicts poor prognosis in patients undergoing resection for colorectal liver metastases. Eur J Surg Oncol. (2018) 10.1016/j.ejso.2018.02.247
    1. Andreou A, Aloia TA, Brouquet A, Dickson PV, Zimmitti G, Maru DM, et al. Margin status remains an important determinant of survival after surgical resection of colorectal liver metastases in the era of modern chemotherapy. Ann Surg. 257 (2013) 1079–1088. 10.1097/SLA.0b013e318283a4d1
    1. Margonis GA, Sasaki K, Andreatos N, Kim Y, Merath K, Wagner D, et al. KRAS mutation status dictates optimal surgical margin width in patients undergoing resection of colorectal liver metastases. Ann Surg Oncol. 24 (2017) 264–271. 10.1245/s10434-016-5609-1
    1. Brudvik KW, Mise Y, Chung MH, Chun YS, Kopetz SE, Passot G, et al. RAS mutation predicts positive resection margins and narrower resection margins in patients undergoing resection of colorectal liver metastases. Ann Surg Oncol. 23 (2016) 2635–2643. 10.1245/s10434-016-5187-2
    1. Jiang BB, Yan K, Zhang ZY, Yang W, Wu W, Yin SS, et al. The value of KRAS gene status in predicting local tumor progression of colorectal liver metastases following radiofrequency ablation. Int J Hyperthermia. 36 (2019) 211–219. 10.1080/02656736.2018.1556818
    1. D’Angelica M, Kornprat P, Gonen M, DeMatteo RP, Fong Y, Blumgart LH, et al. Effect on outcome of recurrence patterns after hepatectomy for colorectal metastases. Ann Surg Oncol. 18 (2011) 1096–1103. 10.1245/s10434-010-1409-1
    1. Adam R, Bismuth H, Castaing D, Waechter F, Navarro F, Abascal A, et al. Repeat hepatectomy for colorectal liver metastases. Ann Surg. 225 (1997) 51–60.
    1. Adam R, Pascal G, Azoulay D, Tanaka K, Castaing D, Bismuth H. Liver resection for colorectal metastases: the third hepatectomy. Ann Surg. 238 (2003) 871–883. 10.1097/01.sla.0000098112.04758.4e
    1. Adam R, Laurent A, Azoulay D, Castaing D, Bismuth H. Two-stage hepatectomy: A planned strategy to treat irresectable liver tumors. Ann Surg. 232 (2000) 777–785.
    1. Jaeck D, Oussoultzoglou E, Rosso E, Greget M, Weber J-C, Bachellier P. A Two-stage hepatectomy procedure combined with portal vein embolization to achieve curative resection for initially unresectable multiple and bilobar colorectal liver metastases. Ann Surg. 240 (2004) 1037–1051. 10.1097/01.sla.0000145965.86383.89
    1. Kawaguchi Y, Lillemoe HA, Vauthey JN. Dealing with an insufficient future liver remnant: Portal vein embolization and two-stage hepatectomy. J Surg Oncol. 119 (2019) 594–603. 10.1002/jso.25430
    1. Passot G, Chun YS, Kopetz SE, Zorzi D, Brudvik KW, Kim BJ, et al. Predictors of Safety and Efficacy of 2-Stage Hepatectomy for Bilateral Colorectal Liver Metastases. J Am Coll Surg. 223 (2016) 99–108. 10.1016/j.jamcollsurg.2015.12.057
    1. Wicherts DA, Miller R, de Haas RJ, Bitsakou G, Vibert E, Veilhan LA, et al. Long-term results of two-stage hepatectomy for irresectable colorectal cancer liver metastases. Ann Surg. 248 (2008) 994–1005. 10.1097/SLA.0b013e3181907fd9
    1. Brouquet A, Abdalla EK, Kopetz S, Garrett CR, Overman MJ, Eng C, et al. High survival rate after two-stage resection of advanced colorectal liver metastases: response-based selection and complete resection define outcome. J Clin Oncol. 29 (2011) 1083–1090. 10.1200/JCO.2010.32.6132
    1. Lillemoe HA, Kawaguchi Y, Passot G, Karagkounis G, Simoneau E, You YN, et al. Surgical resection for recurrence after two-stage hepatectomy for colorectal liver metastases is feasible, is safe, and improves survival. J Gastrointest Surg. 23 (2018) 84–92. 10.1007/s11605-018-3890-y
    1. Galandiuk S, Wieand HS, Moertel CG, Cha SS, Fitzgibbons RJ Jr., Pemberton JH, et al. Patterns of recurrence after curative resection of carcinoma of the colon and rectum. Surg Gynecol Obstet. 174 (1992) 27–32.
    1. Tie J, Lipton L, Desai J, Gibbs P, Jorissen RN, Christie M, et al. KRAS mutation is associated with lung metastasis in patients with curatively resected colorectal cancer. Clin Cancer Res. 17 (2011) 1122–1130. 10.1158/1078-0432.CCR-10-1720
    1. Mise Y, Kopetz S, Mehran RJ, Aloia TA, Conrad C, Brudvik KW, et al. Is complete liver resection without resection of synchronous lung metastases justified? Ann Surg Oncol. 22 (2015) 1585–1592. 10.1245/s10434-014-4207-3
    1. Nash GM, Gimbel M, Shia J, Nathanson DR, Ndubuisi MI, Zeng ZS, et al. KRAS mutation correlates with accelerated metastatic progression in patients with colorectal liver metastases. Ann Surg Oncol. 17 (2010) 572–578. 10.1245/s10434-009-0605-3
    1. Karagkounis G, Torbenson MS, Daniel HD, Azad NS, Diaz LA Jr., Donehower RC, et al. Incidence and prognostic impact of KRAS and BRAF mutation in patients undergoing liver surgery for colorectal metastases. Cancer. 119 (2013) 4137–4144. 10.1002/cncr.28347
    1. Lin Q, Ye Q, Zhu D, Wei Y, Ren L, Ye L, et al. Determinants of long-term outcome in patients undergoing simultaneous resection of synchronous colorectal liver metastases. PLoS One. 9 (2014) e105747 10.1371/journal.pone.0105747
    1. Margonis GA, Kim Y, Sasaki K, Samaha M, Amini N, Pawlik TM. Codon 13 KRAS mutation predicts patterns of recurrence in patients undergoing hepatectomy for colorectal liver metastases. Cancer. 122 (2016) 2698–2707. 10.1002/cncr.30085
    1. Amikura K, Akagi K, Ogura T, Takahashi A, Sakamoto H. The RAS mutation status predicts survival in patients undergoing hepatic resection for colorectal liver metastases: The results from a genetic analysis of all-RAS. J Surg Oncol. 117 (2018) 745–755. 10.1002/jso.24910
    1. Wang K, Liu W, Yan XL, Li J, Xing BC. Long-term postoperative survival prediction in patients with colorectal liver metastasis. Oncotarget. 8 (2017) 79927–79934. 10.18632/oncotarget.20322
    1. Odisio BC, Yamashita S, Huang SY, Harmoush S, Kopetz SE, Ahrar K, et al. Local tumour progression after percutaneous ablation of colorectal liver metastases according to RAS mutation status. Br J Surg. 104 (2017) 760–768. 10.1002/bjs.10490
    1. Calandri M, Yamashita S, Gazzera C, Fonio P, Veltri A, Bustreo S, et al. Ablation of colorectal liver metastasis: Interaction of ablation margins and RAS mutation profiling on local tumour progression-free survival. Eur Radiol. 28 (2018) 2727–2734. 10.1007/s00330-017-5273-2
    1. Denbo JW, Yamashita S, Passot G, Egger M, Chun YS, Kopetz SE, et al. RAS mutation is associated with decreased survival in patients undergoing repeat hepatectomy for colorectal liver metastases. J Gastrointest Surg. 21 (2017) 68–77. 10.1007/s11605-016-3189-9

Source: PubMed

Sponsorzy i współpracownicy

Warunki medyczne

Interwencje lekowe

3
Subskrybuj