{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T06:47:24Z","timestamp":1764226044689,"version":"3.46.0"},"reference-count":23,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T00:00:00Z","timestamp":1764028800000},"content-version":"vor","delay-in-days":24,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81972520"],"award-info":[{"award-number":["81972520"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2025,11]]},"abstract":"ABSTRACT<\/jats:title>\n \n We report a unique case of a 57\u2010year\u2010old man with a gastrointestinal stromal tumor (GIST) that developed a high\u2010grade phenotype and additional genetic alterations in the subsequent recurrence. Histologically, the initial resected tumor showed a typical morphology with uniform spindle\u2010shaped cells arranged in fascicular and whorling patterns. However, based on large tumor size and mitotic activity it was designated as high risk. Tumor cells were immunoreactive for CD117 and DOG1. Mutational analysis identified no\n KIT<\/jats:italic>\n or\n PDGFRA<\/jats:italic>\n hotspot mutations. Next\u2010generation sequencing (NGS) further demonstrated an\n NF1<\/jats:italic>\n mutation (c.1466A>G) without\n KIT<\/jats:italic>\n or\n PDGFRA<\/jats:italic>\n mutations. In contrast, the recurrent tumor displayed a higher\u2010grade morphology. Tumor cells were positive for MDM2, while showing decreased expression for CD117 and DOG1. NGS and molecular assays detected no\n KIT<\/jats:italic>\n or\n PDGFRA<\/jats:italic>\n mutations, but confirmed the\n NF1<\/jats:italic>\n mutation (c.1466A>G). In addition, NGS identified\n MDM2<\/jats:italic>\n and\n MYC<\/jats:italic>\n amplification. This is the first report describing an\n NF1<\/jats:italic>\n \u2010mutant GIST harboring coamplification of\n MDM2<\/jats:italic>\n and\n MYC<\/jats:italic>\n and associated with a higher\u2010grade tumor progression.\n <\/jats:p>","DOI":"10.1002\/gcc.70096","type":"journal-article","created":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T13:26:02Z","timestamp":1764077162000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["\n NF1<\/i>\n <\/scp>\n Mutated Gastrointestinal Stromal Tumors With Coamplification of\n \n MDM2<\/i>\n <\/scp>\n and\n \n MYC<\/i>\n <\/scp>"],"prefix":"10.1002","volume":"64","author":[{"given":"Xinyang","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Pathology West China Hospital, Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Pathology West China Hospital, Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3941-1494","authenticated-orcid":false,"given":"Xin","family":"He","sequence":"additional","affiliation":[{"name":"Department of Pathology West China Hospital, Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Du","family":"He","sequence":"additional","affiliation":[{"name":"Department of Pathology West China Hospital, Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pathology West China Hospital, Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongying","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pathology West China Hospital, Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,25]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"100","volume-title":"WHO Classification of Tumours of Soft Tissue and Bone","author":"Dei Tos A. 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