{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T07:04:02Z","timestamp":1785135842271,"version":"3.55.0"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T00:00:00Z","timestamp":1783555200000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["IJU Case Reports"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Neurofibromatosis type 1 (NF1) is a genetic disorder that increases the risk of various tumors. However, its association with testicular germ cell tumors (GCTs) is rare. We report a case of metastatic GCT in an NF1 patient treated with precision medicine.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>\n                      A 40\u2010year\u2010old male with NF1 presented with a left testicular non\u2010seminomatous GCT and lung metastases. The tumor showed progressive disease after chemotherapy (VIP, TGP) and surgical removal of metastases. Comprehensive genomic profiling (CGP) test found a pathogenic\n                      <jats:italic>NF1<\/jats:italic>\n                      frameshift mutation (p.Q514fs*43). Based on this finding, the patient received the MEK inhibitor trametinib under patient\u2010proposed healthcare services (BELIEVE Trial). Treatment resulted in normalization of serum alpha\u2010fetoprotein (AFP) for 6\u2009months before the tumor eventually progressed. The patient died at 39\u2009months after diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This is the first report of trametinib for a metastatic GCT with an\n                      <jats:italic>NF1<\/jats:italic>\n                      mutation, suggesting a possible but limited treatment effect.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Trial Registration<\/jats:title>\n                    <jats:p>The prospective trial of patient\u2010proposed healthcare services with multiple targeted agents based on the results of gene profiling by multigene panel test (BELIEVE), NCCH1901\/jRCTs031190104<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/iju5.70223","type":"journal-article","created":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T00:51:26Z","timestamp":1783644686000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Metastatic Testicular Germ Cell Tumor in a Patient With Neurofibromatosis Type 1: Treatment With Trametinib Based on\n                    <scp>\n                      <i>NF1<\/i>\n                    <\/scp>\n                    Gene Mutation"],"prefix":"10.1002","volume":"9","author":[{"given":"Keita","family":"Goto","sequence":"first","affiliation":[{"name":"Department of Urology Dokkyo Medical University  Mibu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4380-9294","authenticated-orcid":false,"given":"Toshiki","family":"Kijima","sequence":"additional","affiliation":[{"name":"Department of Urology Dokkyo Medical University  Mibu 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