循环肿瘤DNA在转移性黑色素瘤靶向治疗及免疫治疗中的应用

摘要/Abstract

摘要：

靶向治疗及免疫治疗是转移性黑色素瘤治疗的重要手段,但治疗过程中监测患者疾病进展和治疗反应是精准治疗及个体化治疗的关键。循环肿瘤DNA作为一种无创性的“液态活检”手段,因其对基因突变的高度敏感性、特异性,以及可以被定性、定量和追踪等优势,在监测转移性黑色素瘤靶向治疗及免疫治疗过程中的疾病进展、疗效评估、预后预测等方面显示出良好的应用价值。

关键词:黑色素瘤,分子靶向治疗,循环肿瘤DNA,免疫治疗

Abstract:

Targeted therapy and immunotherapy are important methods for the treatment of metastatic melanoma, but monitoring the patient's disease progress and treatment response during the treatment is the key to accurate treatment and personalized treatment.Circulating tumor DNA (ctDNA) as a non-invasive "liquid biopsy" method, due to its high sensitivity and specificity for gene mutations, and the advantages of being qualitative, quantitative and traceable, which has shown great application value in monitoring metastatic melanoma progression, evaluating efficacy, and predicting prognosis during targeted therapy and immuno-therapy.

Key words:Melanoma,Molecular targeted therapy,Circulating tumor DNA,Immunotherapy

杜明丽, 李桂香, 吴文娟, 赵磊. 循环肿瘤DNA在转移性黑色素瘤靶向治疗及免疫治疗中的应用[J]. 国际肿瘤学杂志, 2020, 47(6): 381-384.

Du Mingli, Li Guixiang, Wu Wenjuan, Zhao Lei. Application of circulating tumor DNA in targeted therapy and immunotherapy of metastatic melanoma[J]. Journal of International Oncology, 2020, 47(6): 381-384.

参考文献32

[1]	甄振华, 申传厚. 转移性恶性黑色素瘤分子靶向及免疫治疗进展[J]. 中国肿瘤, 2014,23(10):854-859. DOI: 10.11735/j.issn.1004-0242.2014.10.A014.
[2]	Calapre L, Warburton L, Millward M, et al. Circulating tumour DNA (ctDNA) as a liquid biopsy for melanoma[J]. Cancer Lett, 2017,404:62-69. DOI: 10.1016/j.canlet.2017.06.030. doi:10.1016/j.canlet.2017.06.030pmid:28687355
[3]	Canzoniero JV, Park BH. Use of cell free DNA in breast oncology[J]. Biochim Biophys Acta, 2016,1865(2):266-274. DOI: 10.1016/j.bbcan.2016.03.006. doi:10.1016/j.bbcan.2016.03.006pmid:27012505
[4]	Gray ES, Rizos H, Reid AL, et al. Circulating tumor DNA to monitor treatment response and detect acquired resistance in patients with metastatic melanoma[J]. Oncotarget, 2015,6(39):42008-42018. DOI: 10.18632/oncotarget.5788. doi:10.18632/oncotarget.5788pmid:26524482
[5]	Lee JH, Long GV, Boyd S, et al. Circulating tumour DNA predicts response to anti-PD1 antibodies in metastatic melanoma[J]. Ann Oncol, 2017,28(5):1130-1136. DOI: 10.1093/annonc/mdx026. doi:10.1093/annonc/mdx026pmid:28327969
[6]	Coit DG, Thompson JA, Albertini MR, et al. Cutaneous melanoma, version 2.2019, NCCN clinical practice guidelines in oncology[J]. J Natl Compr Canc Netw, 2019,17(4):367-402. DOI: 10.6004/jnccn.2019.0018. doi:10.6004/jnccn.2019.0018pmid:30959471
[7]	Ashida A, Sakaizawa K, Mikoshiba A, et al. Circulating tumour DNA reflects tumour burden independently of adverse events caused by systemic therapies for melanoma[J]. Acta Derm Venereol, 2019,99(12):1184-1185. DOI: 10.2340/00015555-3279. doi:10.2340/00015555-3279pmid:31396634
[8]	Schreuer M, Meersseman G, Van Den Herrewegen S, et al. Quantita-tive assessment of BRAF^V600mutant circulating cell-free tumor DNA as a tool for therapeutic monitoring in metastatic melanoma patients treated with BRAF/MEK inhibitors [J]. J Transl Med, 2016,14:95. DOI: 10.1186/s12967-016-0852-6. doi:10.1186/s12967-016-0852-6pmid:27095081
[9]	Schreuer M Meersseman G van Den Herrewegen S, et al. Applica-tions for quantitative measurement of BRAF^V600mutant cell-free tumor DNA in the plasma of patients with metastatic melanoma [J]. Melanoma Res, 2016,26(2):157-163. DOI: 10.1097/CMR.000000000-0000224. doi:10.1097/CMR.0000000000000224pmid:26636909
[10]	Gorges K, Wiltfang L, Gorges TM, et al. Intra-patient heterogeneity of circulating tumor cells and circulating tumor DNA in blood of melanoma patients[J]. Cancers (Basel), 2019, 11(11). pii: E1685. DOI: 10.3390/cancers11111685.
[11]	Scherer F, Kurtz DM, Newman AM, et al. Distinct biological sub-types and patterns of genome evolution in lymphoma revealed by circulating tumor DNA[J]. Sci Transl Med, 2016, 8(364):364ra155. DOI: 10.1126/scitranslmed.aai8545. doi:10.1126/scitranslmed.aai8545pmid:27831904
[12]	Haselmann V, Gebhardt C, Brechtel I, et al. Liquid profiling of circulating tumor DNA in plasma of melanoma patients for companion diagnostics and monitoring of BRAF inhibitor therapy[J]. Clin Chem, 2018,64(5):830-842. DOI: 10.1373/clinchem.2017.281543. doi:10.1373/clinchem.2017.281543pmid:29483107
[13]	Sanmamed MF, Fernández-Landázuri S, Rodriguez C, et al. Quantitative cell-free circulating BRAF^V600Emutation analysis by use of droplet digital PCR in the follow-up of patients with melanoma being treated with BRAF inhibitors [J]. Clin Chem, 2015,61(1):297-304. DOI: 10.1373/clinchem.2014.230235. doi:10.1373/clinchem.2014.230235pmid:25411185
[14]	Vidal J, Taus A, Montagut C. Dynamic treatment stratification using ctDNA[J]. Recent Results Cancer Res, 2020,215:263-273. DOI: 10.1007/978-3-030-26439-0_14. doi:10.1007/978-3-030-26439-0_14pmid:31605234
[15]	Lipson EJ, Velculescu VE, Pritchard TS, et al. Circulating tumor DNA analysis as a real-time method for monitoring tumor burden in melanoma patients undergoing treatment with immune checkpoint block-ade[J]. J Immunother Cancer, 2014,2(1):42. DOI: 10.1186/s40425-014-0042-0. doi:10.1186/s40425-014-0042-0pmid:25516806
[16]	Santiago-Walker A, Gagnon R, Mazumdar J, et al. Correlation of BRAF mutation status in circulating-free DNA and tumor and association with clinical outcome across four BRAFi and MEKi clinical trials[J]. Clin Cancer Res, 2016,22(3):567-574. DOI: 10.1158/1078-0432.CCR-15-0321. doi:10.1158/1078-0432.CCR-15-0321pmid:26446943
[17]	McEvoy AC, Warburton L, Al-Ogaili Z, et al. Correlation between circulating tumour DNA and metabolic tumour burden in metastatic melanoma patients[J]. BMC cancer, 2018,18(1):726. DOI: 10.1186/s12885-018-4637-6. doi:10.1186/s12885-018-4637-6pmid:29986670
[18]	Louveau B, Tost J, Mauger F, et al. Clinical value of early detection of circulating tumour DNA-BRAF(V600mut) in patients with metastatic melanoma treated with a BRAF inhibitor[J]. ESMO Open, 2017,2(2):e000173. DOI: 10.1136/esmoopen-2017-000173. doi:10.1136/esmoopen-2017-000173pmid:28761746
[19]	Chang GA, Tadepalli JS, Shao Y, et al. Sensitivity of plasma BRAF mutant and NRAS mutant cell-free DNA assays to detect metastatic melanoma in patients with low RECIST scores and non-RECIST disease progression[J]. Mol Oncol, 2016,10(1):157-165. DOI: 10.1016/j.molonc.2015.09.005. doi:10.1016/j.molonc.2015.09.005pmid:26440707
[20]	Gonzalez-Cao M, Mayo-de-Las-Casas C, Molina-Vila MA, et al. BRAF mutation analysis in circulating free tumor DNA of melanoma patients treated with BRAF inhibitors[J]. Melanoma Res, 2015,25(6):486-495. DOI: 10.1097/CMR.0000000000000187. doi:10.1097/CMR.0000000000000187pmid:26366702
[21]	Hodi FS, Hwu WJ, Kefford R, et al. Evaluation of immune-related response criteria and rECIST v1.1 in patients with advanced melanoma treated with pembrolizumab[J]. J Clin Oncol, 2016,34(13):1510-1517. DOI: 10.1200/JCO.2015.64.0391. doi:10.1200/JCO.2015.64.0391pmid:26951310
[22]	Seremet T, Jansen Y, Planken S, et al. Undetectable circulating tumor DNA (ctDNA) levels correlate with favorable outcome in metastatic melanoma patients treated with anti-PD1 therapy[J]. J Transl Med, 2019,17(1):303. DOI: 10.1186/s12967-019-2051-8. doi:10.1186/s12967-019-2051-8pmid:31488153
[23]	Lee JH, Long GV, Menzies AM, et al. Association between circulating tumor DNA and pseudoprogression in patients with metastatic melanoma treated with anti-programmed cell death 1 antibodies[J]. JAMA Oncol, 2018,4(5):717-721. DOI: 10.1001/jamaoncol.2017.5332. doi:10.1001/jamaoncol.2017.5332pmid:29423503
[24]	Diaz LA Jr, Bardelli A. Liquid biopsies: genotyping circulating tumor DNA[J]. J Clin Oncol, 2014,32(6):579-586. DOI: 10.1200/jco.2012.45.2011. doi:10.1200/JCO.2012.45.2011
[25]	Syeda MM, Wiggins JM, Corless B, et al. Validation of circulating tumor DNA assays for detection of metastatic melanoma[J]. Methods Mol Biol, 2020,2055:155-180. DOI: 10.1007/978-1-4939-9773-2_7. doi:10.1007/978-1-4939-9773-2_7pmid:31502151
[26]	Heitzer E, Perakis S, Geigl JB, et al. The potential of liquid biopsies for the early detection of cancer[J]. NPJ Precis Oncol, 2017,1(1):36. DOI: 10.1038/s41698-017-0039-5. doi:10.1038/s41698-017-0039-5pmid:29872715
[27]	Hench IB, Hench J, Tolnay M. Liquid biopsy in clinical management of breast, lung, and colorectal cancer[J]. Front Med (Lausanne), 2018,5:9. DOI: 10.3389/fmed.2018.00009.
[28]	Siravegna G, Mussolin B, Venesio T, et al. How liquid biopsies can change clinical practice in oncology[J]. Ann Oncol, 2019,30(10):1580-1590. DOI: 10.1093/annonc/mdz227. doi:10.1093/annonc/mdz227pmid:31373349
[29]	Herbreteau G, Charpentier S, Vallée A, et al. Use of circulating tumoral DNA to guide treatment for metastatic melanoma[J]. Pharmacogenomics, 2019,20(18):1259-1270. DOI: 10.2217/pgs-2019-0097. doi:10.2217/pgs-2019-0097pmid:31596166
[30]	Ashida A, Sakaizawa K, Mikoshiba A, et al. Circulating tumour DNA reflects tumour burden independently of adverse events caused by systemic therapies for melanoma[J]. Acta Derm Venereol, 2019,99(12):1184-1185. DOI: 10.2340/00015555-3279. doi:10.2340/00015555-3279pmid:31396634
[31]	Sakaizawa K, Ashida A, Uchiyama A, et al. Clinical characteristics associated with BRAF, NRAS and KIT mutations in Japanese melanoma patients[J]. J Dermatol Sci, 2015,80(1):33-37. DOI: 10.1016/j.jdermsci.2015.07.012. doi:10.1016/j.jdermsci.2015.07.012pmid:26282084
[32]	Donnelly D 3rd, Aung PP, Jour G. The "-OMICS" facet of mela-noma: heterogeneity of genomic, proteomic and metabolomic biomarkers[J]. Semin Cancer Biol, 2019,59:165-174. DOI: 10.1016/j.semcancer.2019.06.014. doi:10.1016/j.semcancer.2019.06.014pmid:31295564