{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T10:02:32Z","timestamp":1769076152967,"version":"3.49.0"},"reference-count":42,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["mp.uscap.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Modern Pathology"],"published-print":{"date-parts":[[2022,11]]},"DOI":"10.1038\/s41379-022-01116-5","type":"journal-article","created":{"date-parts":[[2022,6,10]],"date-time":"2022-06-10T14:08:02Z","timestamp":1654870082000},"page":"1596-1608","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Comprehensive genomic analysis of primary malignant melanoma of the esophagus reveals similar genetic patterns compared with epithelium-associated melanomas"],"prefix":"10.1016","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7664-887X","authenticated-orcid":false,"given":"Jingjing","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bing","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Ye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shi","family":"Yan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenyan","family":"Guan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Changxi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1441-1452","authenticated-orcid":false,"given":"Zicheng","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zaixian","family":"Tai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shimei","family":"Pei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanyuan","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaolei","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaqi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3531-1656","authenticated-orcid":false,"given":"Nan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1038\/s41379-022-01116-5_bib1","doi-asserted-by":"crossref","unstructured":"Wallis, G., Sehgal, V., Haider, A., Bridgewater, J., Novelli, M., Dawas, K. et al. Primary malignant melanoma of the esophagus. Endoscopy47Suppl 1UCTN, E81\u201382 (2015).","DOI":"10.1055\/s-0034-1391126"},{"key":"10.1038\/s41379-022-01116-5_bib2","doi-asserted-by":"crossref","unstructured":"Spencer, K. R. & Mehnert, J. M. Mucosal Melanoma: Epidemiology, Biology and Treatment. Cancer Treat Res167, 295\u2013320 (2016).","DOI":"10.1007\/978-3-319-22539-5_13"},{"key":"10.1038\/s41379-022-01116-5_bib3","doi-asserted-by":"crossref","unstructured":"Lasota, J., Kowalik, A., Felisiak-Golabek, A., Zieba, S., Waloszczyk, P., Masiuk, M. et al. Primary malignant melanoma of esophagus: clinicopathologic characterization of 20 cases including molecular genetic profiling of 15 tumors. Mod Pathol32, 957\u2013966 (2019).","DOI":"10.1038\/s41379-018-0163-y"},{"key":"10.1038\/s41379-022-01116-5_bib4","doi-asserted-by":"crossref","unstructured":"Tsuyama, S., Kohsaka, S., Hayashi, T., Suehara, Y., Hashimoto, T., Kajiyama, Y. et al. Comprehensive clinicopathological and molecular analysis of primary malignant melanoma of the oesophagus. Histopathology78, 240\u2013251 (2021).","DOI":"10.1111\/his.14210"},{"key":"10.1038\/s41379-022-01116-5_bib5","doi-asserted-by":"crossref","unstructured":"Bastian, B. C. The molecular pathology of melanoma: an integrated taxonomy of melanocytic neoplasia. Annu Rev Pathol9, 239\u2013271 (2014).","DOI":"10.1146\/annurev-pathol-012513-104658"},{"key":"10.1038\/s41379-022-01116-5_bib6","doi-asserted-by":"crossref","unstructured":"Mundra, P. A., Dhomen, N., Rodrigues, M., Mikkelsen, L. H., Cassoux, N., Brooks, K. et al. Ultraviolet radiation drives mutations in a subset of mucosal melanomas. Nat Commun12, 259 (2021).","DOI":"10.1038\/s41467-020-20432-5"},{"key":"10.1038\/s41379-022-01116-5_bib7","doi-asserted-by":"crossref","unstructured":"Wang, X., Kong, Y., Chi, Z., Sheng, X., Cui, C., Mao, L. et al. Primary malignant melanoma of the esophagus: A retrospective analysis of clinical features, management, and survival of 76 patients. Thorac Cancer10, 950\u2013956 (2019).","DOI":"10.1111\/1759-7714.13034"},{"key":"10.1038\/s41379-022-01116-5_bib8","doi-asserted-by":"crossref","unstructured":"Newell, F., Kong, Y., Wilmott, J. S., Johansson, P. A., Ferguson, P. M., Cui, C. et al. Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets. Nat Commun10, 3163 (2019).","DOI":"10.1038\/s41467-019-11107-x"},{"key":"10.1038\/s41379-022-01116-5_bib9","doi-asserted-by":"crossref","unstructured":"Zhou, R., Shi, C., Tao, W., Li, J., Wu, J., Han, Y. et al. Analysis of Mucosal Melanoma Whole-Genome Landscapes Reveals Clinically Relevant Genomic Aberrations. Clin Cancer Res25, 3548\u20133560 (2019).","DOI":"10.1158\/1078-0432.CCR-18-3442"},{"key":"10.1038\/s41379-022-01116-5_bib10","doi-asserted-by":"crossref","unstructured":"Li, J., Yan, S., Liu, Z., Zhou, Y., Pan, Y., Yuan, W. et al. Multiregional sequencing reveals genomic alterations and clonal dynamics in primary malignant melanoma of the esophagus. Cancer Res78, 338\u2013347 (2018).","DOI":"10.1158\/0008-5472.CAN-17-0938"},{"key":"10.1038\/s41379-022-01116-5_bib11","unstructured":"Bailey, M. H., Tokheim, C., Porta-Pardo, E., Sengupta, S., Bertrand, D., Weerasinghe, A. et al. Comprehensive characterization of cancer driver genes and mutations. Cell173, 371\u2013385 e318 (2018)."},{"key":"10.1038\/s41379-022-01116-5_bib12","doi-asserted-by":"crossref","unstructured":"Vogelstein, B., Papadopoulos, N., Velculescu, V. E., Zhou, S., Diaz, L. A., Jr. & Kinzler, K. W. Cancer genome landscapes. Science (New York, N.Y.)339, 1546\u20131558 (2013).","DOI":"10.1126\/science.1235122"},{"key":"10.1038\/s41379-022-01116-5_bib13","doi-asserted-by":"crossref","unstructured":"Hu, Z., Ding, J., Ma, Z., Sun, R., Seoane, J. A., Scott Shaffer, J. et al. Quantitative evidence for early metastatic seeding in colorectal cancer. Nat Genet51, 1113\u20131122 (2019).","DOI":"10.1038\/s41588-019-0423-x"},{"key":"10.1038\/s41379-022-01116-5_bib14","doi-asserted-by":"crossref","unstructured":"Bielski, C. M., Zehir, A., Penson, A. V., Donoghue, M. T. A., Chatila, W., Armenia, J. et al. Genome doubling shapes the evolution and prognosis of advanced cancers. Nat Genet50, 1189\u20131195 (2018).","DOI":"10.1038\/s41588-018-0165-1"},{"key":"10.1038\/s41379-022-01116-5_bib15","doi-asserted-by":"crossref","unstructured":"Nahar, R., Zhai, W., Zhang, T., Takano, A., Khng, A. J., Lee, Y. Y. et al. Elucidating the genomic architecture of Asian EGFR-mutant lung adenocarcinoma through multi-region exome sequencing. Nat Commun9, 216 (2018).","DOI":"10.1038\/s41467-017-02584-z"},{"key":"10.1038\/s41379-022-01116-5_bib16","doi-asserted-by":"crossref","unstructured":"Wang, Z., Duan, J., Cai, S., Han, M., Dong, H., Zhao, J. et al. Assessment of blood tumor mutational burden as a potential biomarker for immunotherapy in patients with non-small cell lung cancer with use of a next-generation sequencing cancer gene panel. JAMA Oncol5, 696\u2013702 (2019).","DOI":"10.1001\/jamaoncol.2018.7098"},{"key":"10.1038\/s41379-022-01116-5_bib17","unstructured":"Cancer Genome Atlas, N. Genomic Classification of Cutaneous Melanoma. Cell161, 1681\u20131696 (2015)."},{"key":"10.1038\/s41379-022-01116-5_bib18","unstructured":"Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y. et al. The repertoire of mutational signatures in human cancer. Nature578, 94\u2013101 (2020)."},{"key":"10.1038\/s41379-022-01116-5_bib19","doi-asserted-by":"crossref","unstructured":"Newell, F., Wilmott, J. S., Johansson, P. A., Nones, K., Addala, V., Mukhopadhyay, P. et al. Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity. Nat Commun11, 5259 (2020).","DOI":"10.1038\/s41467-020-18988-3"},{"key":"10.1038\/s41379-022-01116-5_bib20","doi-asserted-by":"crossref","unstructured":"Wojtowicz, D., Leiserson, M. D. M., Sharan, R. & Przytycka, T. M. DNA Repair Footprint Uncovers Contribution of DNA Repair Mechanism to Mutational Signatures. Pac Symp Biocomput25, 262\u2013273 (2020).","DOI":"10.1142\/9789811215636_0024"},{"key":"10.1038\/s41379-022-01116-5_bib21","doi-asserted-by":"crossref","unstructured":"Wang, Q., Yang, Y., Yang, M., Li, X. & Chen, K. High mutation load, immune-activated microenvironment, favorable outcome, and better immunotherapeutic efficacy in melanoma patients harboring MUC16\/CA125 mutations. Aging (Albany NY)12, 10827\u201310843 (2020).","DOI":"10.18632\/aging.103296"},{"key":"10.1038\/s41379-022-01116-5_bib22","doi-asserted-by":"crossref","unstructured":"Wang, X., Yu, X., Krauthammer, M., Hugo, W., Duan, C., Kanetsky, P. A. et al. The Association of MUC16 Mutation with Tumor Mutation Burden and Its Prognostic Implications in Cutaneous Melanoma. Cancer Epidemiol Biomarkers Prev29, 1792\u20131799 (2020).","DOI":"10.1158\/1055-9965.EPI-20-0307"},{"key":"10.1038\/s41379-022-01116-5_bib23","doi-asserted-by":"crossref","unstructured":"Yang, Y., Zhang, J., Chen, Y., Xu, R., Zhao, Q. & Guo, W. MUC4, MUC16, and TTN genes mutation correlated with prognosis, and predicted tumor mutation burden and immunotherapy efficacy in gastric cancer and pan-cancer. Clin Transl Med10, e155 (2020).","DOI":"10.1002\/ctm2.155"},{"key":"10.1038\/s41379-022-01116-5_bib24","doi-asserted-by":"crossref","unstructured":"Yu, Y., Lin, D., Li, A., Chen, Y., Ou, Q., Hu, H. et al. Association of immune checkpoint inhibitor therapy with survival in patients with cancers with MUC16 variants. JAMA Netw Open3, e205837 (2020).","DOI":"10.1001\/jamanetworkopen.2020.5837"},{"key":"10.1038\/s41379-022-01116-5_bib25","doi-asserted-by":"crossref","unstructured":"Zhang, L., Han, X. & Shi, Y. Association of MUC16 mutation with response to immune checkpoint inhibitors in solid tumors. JAMA Netw Open3, e2013201 (2020).","DOI":"10.1001\/jamanetworkopen.2020.13201"},{"key":"10.1038\/s41379-022-01116-5_bib26","doi-asserted-by":"crossref","unstructured":"Sekine, S., Nakanishi, Y., Ogawa, R., Kouda, S. & Kanai, Y. Esophageal melanomas harbor frequent NRAS mutations unlike melanomas of other mucosal sites. Virchows Archiv Int J Pathol454, 513\u2013517 (2009).","DOI":"10.1007\/s00428-009-0762-6"},{"key":"10.1038\/s41379-022-01116-5_bib27","doi-asserted-by":"crossref","unstructured":"Langer, R., Becker, K., Feith, M., Friess, H., Hofler, H. & Keller, G. Genetic aberrations in primary esophageal melanomas: molecular analysis of c-KIT, PDGFR, KRAS, NRAS and BRAF in a series of 10 cases. Mod Pathol24, 495\u2013501 (2011).","DOI":"10.1038\/modpathol.2010.220"},{"key":"10.1038\/s41379-022-01116-5_bib28","doi-asserted-by":"crossref","unstructured":"Birkeland, E., Zhang, S., Poduval, D., Geisler, J., Nakken, S., Vodak, D. et al. Patterns of genomic evolution in advanced melanoma. Nat Commun9 (2018).","DOI":"10.1038\/s41467-018-05063-1"},{"key":"10.1038\/s41379-022-01116-5_bib29","doi-asserted-by":"crossref","unstructured":"Martincorena, I., Roshan, A., Gerstung, M., Ellis, P., Van Loo, P., McLaren, S. et al. Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin. Science348, 880\u2013886 (2015).","DOI":"10.1126\/science.aaa6806"},{"key":"10.1038\/s41379-022-01116-5_bib30","doi-asserted-by":"crossref","unstructured":"Wang, X., El-Halaby, A. A., Zhang, H., Yang, Q., Laughlin, T. S., Rothberg, P. G. et al. p53 alteration in morphologically normal\/benign breast luminal cells in BRCA carriers with or without history of breast cancer. Hum Pathol68, 22\u201325 (2017).","DOI":"10.1016\/j.humpath.2017.04.007"},{"key":"10.1038\/s41379-022-01116-5_bib31","doi-asserted-by":"crossref","unstructured":"Martincorena, I., Fowler, J. C., Wabik, A., Lawson, A. R. J., Abascal, F., Hall, M. W. J. et al. Somatic mutant clones colonize the human esophagus with age. Science362, 911\u2013917 (2018).","DOI":"10.1126\/science.aau3879"},{"key":"10.1038\/s41379-022-01116-5_bib32","doi-asserted-by":"crossref","unstructured":"Yokoyama, A., Kakiuchi, N., Yoshizato, T., Nannya, Y., Suzuki, H., Takeuchi, Y. et al. Age-related remodelling of oesophageal epithelia by mutated cancer drivers. Nature565, 312\u2013317 (2019).","DOI":"10.1038\/s41586-018-0811-x"},{"key":"10.1038\/s41379-022-01116-5_bib33","doi-asserted-by":"crossref","unstructured":"Marin Navarro, A., Pronk, R. J., van der Geest, A. T., Oliynyk, G., Nordgren, A., Arsenian-Henriksson, M. et al. p53 controls genomic stability and temporal differentiation of human neural stem cells and affects neural organization in human brain organoids. Cell Death Dis11, 52 (2020).","DOI":"10.1038\/s41419-019-2208-7"},{"key":"10.1038\/s41379-022-01116-5_bib34","doi-asserted-by":"crossref","unstructured":"Lopez, S., Lim, E. L., Horswell, S., Haase, K., Huebner, A., Dietzen, M. et al. Interplay between whole-genome doubling and the accumulation of deleterious alterations in cancer evolution. Nat Genet52, 283\u2013293 (2020).","DOI":"10.1038\/s41588-020-0584-7"},{"key":"10.1038\/s41379-022-01116-5_bib35","doi-asserted-by":"crossref","unstructured":"McGranahan, N., Favero, F., de Bruin, E. C., Birkbak, N. J., Szallasi, Z. & Swanton, C. Clonal status of actionable driver events and the timing of mutational processes in cancer evolution. Sci Transl Med7, 283ra254 (2015).","DOI":"10.1126\/scitranslmed.aaa1408"},{"key":"10.1038\/s41379-022-01116-5_bib36","doi-asserted-by":"crossref","unstructured":"Navarro, M. S. & Bachant, J. RanBP2: a tumor suppressor with a new twist on TopoII, SUMO, and centromeres. Cancer Cell13, 293\u2013295 (2008).","DOI":"10.1016\/j.ccr.2008.03.011"},{"key":"10.1038\/s41379-022-01116-5_bib37","doi-asserted-by":"crossref","unstructured":"Dawlaty, M. M., Malureanu, L., Jeganathan, K. B., Kao, E., Sustmann, C., Tahk, S. et al. Resolution of sister centromeres requires RanBP2-mediated SUMOylation of topoisomerase IIalpha. Cell133, 103\u2013115 (2008).","DOI":"10.1016\/j.cell.2008.01.045"},{"key":"10.1038\/s41379-022-01116-5_bib38","doi-asserted-by":"crossref","unstructured":"Blondel-Tepaz, E., Leverve, M., Sokrat, B., Paradis, J. S., Kosic, M., Saha, K. et al. The RanBP2\/RanGAP1-SUMO complex gates beta-arrestin2 nuclear entry to regulate the Mdm2-p53 signaling axis. Oncogene40, 2243\u20132257 (2021).","DOI":"10.1038\/s41388-021-01704-w"},{"key":"10.1038\/s41379-022-01116-5_bib39","doi-asserted-by":"crossref","unstructured":"Curti, B. D. & Faries, M. B. Recent Advances in the Treatment of Melanoma. N Engl J Med384, 2229\u20132240 (2021).","DOI":"10.1056\/NEJMra2034861"},{"key":"10.1038\/s41379-022-01116-5_bib40","doi-asserted-by":"crossref","unstructured":"Mao, L., Qi, Z., Zhang, L., Guo, J. & Si, L. Immunotherapy in acral and mucosal melanoma: current status and future directions. Front Immunol12, 680407 (2021).","DOI":"10.3389\/fimmu.2021.680407"},{"key":"10.1038\/s41379-022-01116-5_bib41","doi-asserted-by":"crossref","unstructured":"Lyu, J., Song, Z., Chen, J., Shepard, M. J., Song, H., Ren, G. et al. Whole-exome sequencing of oral mucosal melanoma reveals mutational profile and therapeutic targets. J Pathol244, 358\u2013366 (2018).","DOI":"10.1002\/path.5017"},{"key":"10.1038\/s41379-022-01116-5_bib42","doi-asserted-by":"crossref","unstructured":"Garutti, M., Targato, G., Buriolla, S., Palmero, L., Minisini, A. M. & Puglisi, F. CDK4\/6 inhibitors in melanoma: a comprehensive review. Cells10 (2021).","DOI":"10.3390\/cells10061334"}],"container-title":["Modern Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41379-022-01116-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41379-022-01116-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0893395222002265?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0893395222002265?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41379-022-01116-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T00:39:34Z","timestamp":1760229574000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0893395222002265"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11]]},"references-count":42,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["S0893395222002265"],"URL":"https:\/\/doi.org\/10.1038\/s41379-022-01116-5","relation":{},"ISSN":["0893-3952"],"issn-type":[{"value":"0893-3952","type":"print"}],"subject":[],"published":{"date-parts":[[2022,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Comprehensive genomic analysis of primary malignant melanoma of the esophagus reveals similar genetic patterns compared with epithelium-associated melanomas","name":"articletitle","label":"Article Title"},{"value":"Modern Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/s41379-022-01116-5","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 United States & Canadian Academy of Pathology.","name":"copyright","label":"Copyright"}]}}