文献詳細
文献概要
特集 ゲノム医学を外科診療に活かす! 癌種別・ゲノム情報の治療選択への活用
大腸癌
著者: 三島沙織1
所属機関: 1国立がん研究センター東病院消化管内科
ページ範囲:P.178 - P.183
文献購入ページに移動【ポイント】
◆切除可能・不能進行再発大腸癌において,ミスマッチ修復機能評価,RAS/BRAF 検査は予後予測や治療戦略のために重要である.
◆切除可能進行再発大腸癌において,微小残存腫瘍の検出は再発予測や術後補助化学療法の選択のために今後重要となってくる可能性がある.
◆包括的ゲノムプロファイリング検査を行うことで,そのほかの希少フラクションが指摘され,治療につながる可能性がある.
◆切除可能・不能進行再発大腸癌において,ミスマッチ修復機能評価,
◆切除可能進行再発大腸癌において,微小残存腫瘍の検出は再発予測や術後補助化学療法の選択のために今後重要となってくる可能性がある.
◆包括的ゲノムプロファイリング検査を行うことで,そのほかの希少フラクションが指摘され,治療につながる可能性がある.
参考文献
1)大腸癌研究会(編):大腸癌治療ガイドライン医師用2022年版,金原出版,2022
2)日本臨床腫瘍学会(編):大腸がん診療における遺伝子関連検査等のガイダンス 第5版 2023年3月.金原出版,2023, p.XV
3)Formica V, Sera F, Cremolini C, et al:KRAS and BRAF mutations in stage II and III colon cancer:a systematic review and meta-analysis. J Natl Cancer Inst 114:517-527, 2022
4)Tie J, Lipton L, Desai J, et al:KRAS mutation is associated with lung metastasis in patients with curatively resected colorectal cancer. Clin Cancer Res 17:1122-1130, 2011
5)Schirripa M, Bergamo F, Cremolini C, et al:BRAF and RAS mutations as prognostic factors in metastatic colorectal cancer patients undergoing liver resection. Br J Cancer 112:1921-1928, 2015
6)André T, de Gramont A, Vernerey D, et al:Adjuvant fluorouracil, leucovorin, and oxaliplatin in stage II to III colon cancer:updated 10-year survival and outcomes according to BRAF mutation and mismatch repair status of the MOSAIC study. J Clin Oncol 33:4176-4187, 2015
7)Uutela A, Osterlund E, Halonen P, et al:Resectability, conversion, metastasectomy and outcome according to RAS and BRAF status for metastatic colorectal cancer in the prospective RAXO study. Br J Cancer 127:686-694, 2022
8)Margonis GA, Buettner S, Andreatos N, et al:Association of BRAF mutations with survival and recurrence in surgically treated patients with metastatic colorectal liver cancer. JAMA Surg 153:e180996, 2018
9)Gau L, Ribeiro M, Pereira B, et al:Impact of BRAF mutations on clinical outcomes following liver surgery for colorectal liver metastases:An updated meta-analysis. Eur J Surg Oncol 47:2722-2733, 2021
10)Yamanaka T, Oki E, Yamazaki K, et al:12-gene recurrence score assay stratifies the recurrence risk in stage II/III colon cancer with surgery alone:the SUNRISE study. J Clin Oncol 34:2906-2913, 2016
11)Asaka S, Arai Y, Nishimura Y, et al:Microsatellite instability-low colorectal cancer acquires a KRAS mutation during the progression from Dukes' A to Dukes' B. Carcinogenesis 30:494-499, 2009
12)Hutchins G, Southward K, Handley K, et al:Value of mismatch repair, KRAS, and BRAF mutations in predicting recurrence and benefits from chemotherapy in colorectal cancer. J Clin Oncol 29:1261-1270, 2011
13)Chika N, Eguchi H, Kumamoto K, et al:Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population. Jpn J Clin Oncol 47:108-117, 2017
14)Fujita M, Liu X, Iwasaki Y, et al:Population-based screening for hereditary colorectal cancer variants in Japan. Clin Gastroenterol Hepatol 20:2132-2141, 2022
15)Diehl F, Schmidt K, Choti MA, et al:Circulating mutant DNA to assess tumor dynamics. Nat Med 14:985-990, 2008
16)Dudley JC, Diehn M:Detection and diagnostic utilization of cellular and cell-free tumor DNA. Ann Rev Pathol 16:199-222, 2021
17)Parikh AR, Seventer EV, Siravegna G, et al:Minimal residual disease detection using a plasma-only circulating tumor DNA assay in patients with colorectal cancer. Clin Cancer Res 27:5586-5594, 2021
18)Kotani D, Oki E, Nakamura Y, et al:Molecular residual disease and efficacy of adjuvant chemotherapy in patients with colorectal cancer. Nat Med 29:127-134, 2023
19)Tie J, Cohen JD, Lahouel K, et al:Circulating tumor DNA analysis guiding adjuvant therapy in stage II colon cancer. N Engl J Med 386:2261-2272, 2022
20)Arnold D, Lueza B, Douillard JY, et al:Prognostic and predictive value of primary tumour side in patients with RAS wild-type metastatic colorectal cancer treated with chemotherapy and EGFR directed antibodies in six randomized trials. Ann Oncol 28:1713-1719, 2017
21)Watanabe J, Muro K, Shitara K, et al:Panitumumab vs bevacizumab added to standard first-line chemotherapy and overall survival among patients with RAS wild-type, left-sided metastatic colorectal cancer:a randomized clinical trial. JAMA 329:1271-1282, 2023
22)Kopetz S, Desai J, Chan E, et al:Phase II pilot study of vemurafenib in patients with metastatic BRAF-mutated colorectal cancer. J Clin Oncol 33:4032-4038, 2015
23)Corcoran RB, Atreya CE, Falchook GS, et al:Combined BRAF and MEK inhibition with dabrafenib and trametinib in BRAF V600-mutant colorectal cancer. J Clin Oncol 33:4023-4031, 2015
24)Kopetz S, Grothey A, Tabernero J, et al:Encorafenib, binimetinib, and cetuximab in BRAF V600E-mutated colorectal cancer. N Engl J Med 382:877-878, 2020
25)Overman MJ, McDermott R, Leach JL, et al:Nivolumab in patients with metastatic DNA mismatch repair-deficient or microsatellite instability-high colorectal cancer(CheckMate 142):an open-label, multicentre, phase 2 study. Lancet Oncol 18:1182-1191, 2017
26)Andre T, Shiu KK, Kim TW, et al:Pembrolizumab in microsatellite-instability-high advanced colorectal cancer. N Engl J Med 383:2207-2218, 2020
27)Nakamura Y, Okamoto W, Kato T, et al:Circulating tumor DNA-guided treatment with pertuzumab plus trastuzumab for HER2-amplified metastatic colorectal cancer:a phase 2 trial. Nat Med 27:1899-1903, 2021
28)Pietrantonio F, DiNicolantonio F, Schrock AB, et al:ALK, ROS1, and NTRK rearrangements in metastatic colorectal cancer. J Natl Cancer Inst 109:djx089, 2017
29)Cocco E, Benhamida J, Middha S, et al:Colorectal carcinomas containing hypermethylated MLH1 promoter and wild-type BRAF/KRAS are enriched for targetable kinase fusions. Cancer Res 79:1047-1053, 2019
30)Doebele RC, Drilon A, Paz-Ares L, et al;trial investigators:Entrectinib in patients with advanced or metastatic NTRK fusion—positive solid tumours:integrated analysis of three phase 1-2 trials. Lancet Oncol 21:271-282, 2020
31)Demetri GD, Paz-Ares L, Farago AF, et al:Efficacy and safety of entrectinib in patients with NTRK fusion-positive(NTRK-fp)tumors:pooled analysis of STARTRK-2, STARTRK-1 and ALKA-372-001. Ann Oncol 29(supple_9):abstr LBA1, 2018
32)Hong DS, DuBois SG, Kummar S, et al:Larotrectinib in patients with TRK fusion-positive solid tumours:a pooled analysis of three phase 1/2 clinical trials. Lancet Oncol 21:531-540, 2020
33)Marabelle A, Fakih M, Lopez J, et al:Association of tumour mutational burden with outcomes in patients with advanced solid tumours treated with pembrolizumab:prospective biomarker analysis of the multicohort, open-label, phase 2 KEYNOTE-158 study. Lancet Oncol 21:1353-1365, 2020
掲載誌情報