Chinese Journal of Dermatology ›› 2026, e20230046.doi: 10.35541/cjd.20230046
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Li Yuehua, Shi Qiong, Gao Tianwen, Li Chunying
Received:2023-01-30
Revised:2024-05-30
Online:2026-02-09
Published:2026-06-18
Contact:
Li Chunying
E-mail:lichying@fmmu.edu.cn
CLC Number:
Li Yuehua, Shi Qiong, Gao Tianwen, Li Chunying. Genomic and molecular characteristics and therapeutic strategies of acral melanoma[J]. Chinese Journal of Dermatology,2026,e20230046. doi:10.35541/cjd.20230046
| [1] | Huang K, Fan J, Misra S. Acral lentiginous melanoma: incidence and survival in the United States, 2006-2015, an Analysis of the SEER Registry[J]. J Surg Res, 2020,251:329⁃339. DOI: 10. 1016/j.jss.2020.02.010. |
| [2] | Chi Z, Li S, Sheng X, et al. Clinical presentation, histology, and prognoses of malignant melanoma in ethnic Chinese: a study of 522 consecutive cases[J]. BMC Cancer, 2011,11:85. DOI: 10. 1186/1471⁃2407⁃11⁃85. |
| [3] | Farshidfar F, Rhrissorrakrai K, Levovitz C, et al. Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis[J]. Nat Commun, 2022,13(1):898. DOI: 10.1038/s41467⁃022⁃28566⁃4. |
| [4] | Shi Q, Liu L, Chen J, et al. Integrative genomic profiling uncovers therapeutic targets of acral melanoma in Asian populations[J]. Clin Cancer Res, 2022,28(12):2690⁃2703. DOI: 10.1158/1078⁃0432.CCR⁃21⁃3344. |
| [5] | Liang WS, Hendricks W, Kiefer J, et al. Integrated genomic analyses reveal frequent TERT aberrations in acral melanoma[J]. Genome Res, 2017,27(4):524⁃532. DOI: 10.1101/gr. 213348.116. |
| [6] | Hayward NK, Wilmott JS, Waddell N, et al. Whole⁃genome landscapes of major melanoma subtypes[J]. Nature, 2017,545(7653):175⁃180. DOI: 10.1038/nature22071. |
| [7] | Newell F, Wilmott JS, Johansson PA, et al. Whole⁃genome sequencing of acral melanoma reveals genomic complexity and diversity[J]. Nat Commun, 2020,11(1):5259. DOI: 10.1038/s41467⁃020⁃18988⁃3. |
| [8] | Hodis E, Watson IR, Kryukov GV, et al. A landscape of driver mutations in melanoma[J]. Cell, 2012,150(2):251⁃263. DOI: 10.1016/j.cell.2012.06.024. |
| [9] | Wang M, Banik I, Shain AH, et al. Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes[J]. Genome Med, 2022,14(1):65. DOI: 10.1186/s13073⁃022⁃01068⁃0. |
| [10] | Zhou R, Shi C, Tao W, et al. Analysis of mucosal melanoma whole⁃genome landscapes reveals clinically relevant genomic aberrations[J]. Clin Cancer Res, 2019,25(12):3548⁃3560. DOI: 10.1158/1078⁃0432.CCR⁃18⁃3442. |
| [11] | Johansson PA, Brooks K, Newell F, et al. Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours[J]. Nat Commun, 2020,11(1):2408. DOI: 10.1038/s41467⁃020⁃16276⁃8. |
| [12] | Robertson AG, Shih J, Yau C, et al. Integrative analysis identifies four molecular and clinical subsets in uveal melanoma[J]. Cancer Cell, 2017,32(2):204⁃220.e15. DOI: 10.1016/j.ccell.2017.07.003. |
| [13] | Hellmann MD, Ciuleanu TE, Pluzanski A, et al. Nivolumab plus ipilimumab in lung cancer with a high tumor mutational burden[J]. N Engl J Med, 2018,378(22):2093⁃2104. DOI: 10.1056/NEJMoa1801946. |
| [14] | Hodi FS, Wolchok JD, Schadendorf D, et al. TMB and inflammatory gene expression associated with clinical outcomes following immunotherapy in advanced melanoma[J]. Cancer Immunol Res, 2021,9(10):1202⁃1213. DOI: 10.1158/2326⁃6066.CIR⁃20⁃0983. |
| [15] | Bhave P, Ahmed T, Lo SN, et al. Efficacy of anti⁃PD⁃1 and ipilimumab alone or in combination in acral melanoma[J]. J Immunother Cancer, 2022,10(7):e004668. DOI: 10.1136/jitc⁃2022⁃004668. |
| [16] | Dimitriou F, Namikawa K, Reijers I, et al. Single⁃agent anti⁃PD⁃1 or combined with ipilimumab in patients with mucosal melanoma: an international, retrospective, cohort study[J]. Ann Oncol, 2022,33(9):968⁃980. DOI: 10.1016/j.annonc.2022.06.004. |
| [17] | Liu L, Bai X, Wang J, et al. Combination of TMB and CNA stratifies prognostic and predictive responses to immunotherapy across metastatic cancer[J]. Clin Cancer Res, 2019,25(24):7413⁃7423. DOI: 10.1158/1078⁃0432.CCR⁃19⁃0558. |
| [18] | Mao L, Ding Y, Bai X, et al. Overall survival of patients with unresectable or metastatic BRAF V600⁃mutant acral/cutaneous melanoma administered dabrafenib plus trametinib: long⁃term follow⁃up of a multicenter, single⁃arm phase iia trial[J]. Front Oncol, 2021,11:720044. DOI: 10.3389/fonc.2021.720044. |
| [19] | Broit N, Johansson PA, Rodgers CB, et al. Systematic review and meta⁃analysis of genomic alterations in acral melanoma[J]. Pigment Cell Melanoma Res, 2022,35(3):369⁃386. DOI: 10. 1111/pcmr.13034. |
| [20] | Ryan MB, Corcoran RB. Therapeutic strategies to target RAS⁃mutant cancers[J]. Nat Rev Clin Oncol, 2018,15(11):709⁃720. DOI: 10.1038/s41571⁃018⁃0105⁃0. |
| [21] | Dummer R, Schadendorf D, Ascierto PA, et al. Binimetinib versus dacarbazine in patients with advanced NRAS⁃mutant melanoma (NEMO): a multicentre, open⁃label, randomised, phase 3 trial[J]. Lancet Oncol, 2017,18(4):435⁃445. DOI: 10. 1016/S1470⁃2045(17)30180⁃8. |
| [22] | Mao L, Guo J, Zhu L, et al. A first⁃in⁃human, phase 1a dose⁃escalation study of the selective MEK1/2 inhibitor FCN⁃159 in patients with advanced NRAS⁃mutant melanoma[J]. Eur J Cancer, 2022,175:125⁃135. DOI: 10.1016/j.ejca.2022.08.005. |
| [23] | Schuler M, Zimmer L, Kim KB, et al. PhaseⅠb/Ⅱ trial of ribociclib in combination with binimetinib in patients with NRAS⁃mutant melanoma[J]. Clin Cancer Res, 2022,28(14):3002⁃3010. DOI: 10.1158/1078⁃0432.CCR⁃21⁃3872. |
| [24] | Conway JR, Dietlein F, Taylor⁃Weiner A, et al. Integrated molecular drivers coordinate biological and clinical states in melanoma[J]. Nat Genet, 2020,52(12):1373⁃1383. DOI: 10. 1038/s41588⁃020⁃00739⁃1. |
| [25] | Wei X, Mao L, Chi Z, et al. Efficacy evaluation of imatinib for the treatment of melanoma: evidence from a retrospective study[J]. Oncol Res, 2019,27(4):495⁃501. DOI: 10.3727/09650401 8X15331163433914. |
| [26] | Janku F, Bauer S, Shoumariyeh K, et al. Efficacy and safety of ripretinib in patients with KIT⁃altered metastatic melanoma[J]. ESMO Open, 2022,7(4):100520. DOI: 10.1016/j.esmoop.2022. 100520. |
| [27] | Patnaik A, Rosen LS, Tolaney SM, et al. Efficacy and safety of abemaciclib, an inhibitor of CDK4 and CDK6, for patients with breast cancer, non⁃small cell lung cancer, and other solid tumors[J]. Cancer Discov, 2016,6(7):740⁃753. DOI: 10.1158/2159⁃8290.CD⁃16⁃0095. |
| [28] | Louveau B, Resche⁃Rigon M, Lesimple T, et al. Phase I⁃II open⁃label multicenter study of Palbociclib + Vemurafenib in BRAF (V600MUT) metastatic melanoma patients: uncovering CHEK2 as a major response mechanism[J]. Clin Cancer Res, 2021,27(14):3876⁃3883. DOI: 10.1158/1078⁃0432.CCR⁃20⁃4050. |
| [29] | Lelliott EJ, Kong IY, Zethoven M, et al. CDK4/6 inhibition promotes antitumor immunity through the induction of T⁃cell memory[J]. Cancer Discov, 2021,11(10):2582⁃2601. DOI: 10. 1158/2159⁃8290.CD⁃20⁃1554. |
| [30] | Decaudin D, Frisch Dit Leitz E, Nemati F, et al. Preclinical evaluation of drug combinations identifies co⁃inhibition of Bcl⁃2/XL/W and MDM2 as a potential therapy in uveal melanoma[J]. Eur J Cancer, 2020,126:93⁃103. DOI: 10.1016/j.ejca.2019.12.012. |
| [31] | Ali SR, Jordan M, Nagarajan P, et al. Nerve density and neuronal biomarkers in cancer[J]. Cancers (Basel), 2022,14(19):4817. DOI: 10.3390/cancers14194817. |
| [32] | Moschos SJ, Sandhu SK, Lewis KD, et al. Phase 1 study of the p53⁃MDM2 inhibitor AMG 232 combined with trametinib plus dabrafenib or trametinib in patients (Pts) with TP53 wild type (TP53WT) metastatic cutaneous melanoma (MCM)[J]. J Clin Oncol, 2017,35(15_suppl):2575. DOI: 10.1200/JCO.2017.35.15_suppl.2575. |
| [33] | Garajová I, Giovannetti E, Biasco G, et al. c⁃Met as a target for personalized therapy[J]. Transl Oncogenomics, 2015,7(Suppl 1):13⁃31. DOI: 10.4137/TOG.S30534. |
| [34] | Daud A, Kluger HM, Kurzrock R, et al. PhaseⅡ randomised discontinuation trial of the MET/VEGF receptor inhibitor cabozantinib in metastatic melanoma[J]. Br J Cancer, 2017,116(4):432⁃440. DOI: 10.1038/bjc.2016.419. |
| [35] | Puzanov I, Sosman J, Santoro A, et al. Phase 1 trial of tivantinib in combination with sorafenib in adult patients with advanced solid tumors[J]. Invest New Drugs, 2015,33(1):159⁃168. DOI: 10.1007/s10637⁃014⁃0167⁃5. |
| [36] | Kim ST, Smith SA, Mortimer P, et al. PhaseⅠ study of ceralasertib (AZD6738), a novel DNA damage repair agent, in combination with weekly paclitaxel in refractory cancer[J]. Clin Cancer Res, 2021,27(17):4700⁃4709. DOI: 10.1158/1078⁃0432.CCR⁃21⁃0251. |
| [37] | Kim R, Kwon M, An M, et al. PhaseⅡ study of ceralasertib (AZD6738) in combination with durvalumab in patients with advanced/metastatic melanoma who have failed prior anti⁃PD⁃1 therapy[J]. Ann Oncol, 2022,33(2):193⁃203. DOI: 10.1016/j.annonc.2021.10.009. |
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